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Gene: SLC12A2 & Disease: KILQS, 72 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
1659746	SLC12A2	c.102G>A	p.Leu34= (p.L34=)	NM_001046.3 M	SNV	LB	3 +	2
1659746	SLC12A2	c.102G>A	p.Leu34= (p.L34=)	NM_001256461.2	SNV	LB	3 +	2
984662	SLC12A2	c.1431del	p.Phe477fs (p.F477fs)	NM_001046.3 M	Del	P	1 +	1
984662	SLC12A2	c.1431delT	--	NM_001046.3 M	Del	P	1 +	1
984663	SLC12A2	c.2006-1G>A	--	NM_001046.3 M	SNV	P	1 +	1
1476334	SLC12A2	c.1127A>G	p.Asn376Ser (p.N376S)	NM_001046.3 M	SNV	VUS	3 +	1
984662	SLC12A2	c.1431del	p.Phe477fs (p.F477fs)	NM_001256461.2	Del	P	1 +	1
984663	SLC12A2	c.2006-1G>A	--	NM_001256461.2	SNV	P	1 +	1
1476334	SLC12A2	c.1127A>G	p.Asn376Ser (p.N376S)	NM_001256461.2	SNV	VUS	3 +	1
1660998	SLC12A2	c.2107+11A>G	--	NM_001046.3 M	SNV	LB	3 +	0
1532036	SLC12A2	c.261C>T	p.Ser87= (p.S87=)	NM_001046.3 M	SNV	LB	3 +	0
1652869	SLC12A2	c.876+17_876+18del	--	NM_001046.3 M	Del	LB	3 +	0
1335592	SLC12A2	c.953-7C>T	--	NM_001046.3 M	SNV	LB	3 +	0
1632597	SLC12A2	c.1773+15T>C	--	NM_001046.3 M	SNV	LB	3 +	0
1679711	SLC12A2	c.3566C>T	p.Ala1189Val (p.A1189V)	NM_001046.3 M	SNV	VUS	2 +	0
1679744	SLC12A2	c.1226T>C	p.Ile409Thr (p.I409T)	NM_001046.3 M	SNV	VUS	2 +	0
1628764	SLC12A2	c.2748A>T	p.Gly916= (p.G916=)	NM_001046.3 M	SNV	LB	3 +	0
1530460	SLC12A2	c.877-16C>G	--	NM_001046.3 M	SNV	LB	3 +	0
1538685	SLC12A2	c.2475+11A>G	--	NM_001046.3 M	SNV	LB	3 +	0
1505967	SLC12A2	c.881G>A	p.Arg294His (p.R294H)	NM_001046.3 M	SNV	VUS	3 +	0

72 Results, 20 per Page

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