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Gene: DHX37 & Disease: NEDBAVC, 31 results

ClinVar	Gene	Nucleotide	Amino Acid	Transcript ID	Mutation type	Clinical Significance	Disease count	Publications
1255483	DHX37	c.3242G>A	p.Arg1081Gln (p.R1081Q)	NM_032656.4 M	SNV	B	2 +	2
1255484	DHX37	c.3195C>T	p.Ala1065= (p.A1065=)	NM_032656.4 M	SNV	B	2 +	2
1255487	DHX37	c.2695+12T>C	--	NM_032656.4 M	SNV	B	2 +	2
1255488	DHX37	c.2605A>G	p.Ser869Gly (p.S869G)	NM_032656.4 M	SNV	B	2 +	2
1255489	DHX37	c.2598G>A	p.Glu866= (p.E866=)	NM_032656.4 M	SNV	B	2 +	2
1255490	DHX37	c.2579-7T>C	--	NM_032656.4 M	SNV	B	2 +	2
1255491	DHX37	c.2578+17T>G	--	NM_032656.4 M	SNV	B	2 +	2
1255492	DHX37	c.2331A>G	p.Thr777= (p.T777=)	NM_032656.4 M	SNV	B	2 +	2
1255493	DHX37	c.2046-6A>G	--	NM_032656.4 M	SNV	B	2 +	2
1255495	DHX37	c.738+13G>A	--	NM_032656.4 M	SNV	B	2 +	2
1255496	DHX37	c.288G>A	p.Met96Ile (p.M96I)	NM_032656.4 M	SNV	B	2 +	2
1251560	DHX37	c.2793A>G	p.Ala931= (p.A931=)	NM_032656.4 M	SNV	B	2 +	2
402139	DHX37	c.1257C>A	p.Asn419Lys (p.N419K)	NM_032656.4 M	SNV	P	1 +	2
1030047	DHX37	c.2956G>A	p.Val986Met (p.V986M)	NM_032656.4 M	SNV	VUS	1 +	2
1030049	DHX37	c.985G>A	p.Val329Ile (p.V329I)	NM_032656.4 M	SNV	VUS	1 +	2
1255485	DHX37	c.2869-38G>A	--	NM_032656.4 M	SNV	B	2 +	1
1255486	DHX37	c.2696-26G>A	--	NM_032656.4 M	SNV	B	2 +	1
1255494	DHX37	c.1294-38T>C	--	NM_032656.4 M	SNV	B	2 +	1
402138	DHX37	c.1460G>A	p.Arg487His (p.R487H)	NM_032656.4 M	SNV	LP	2 +	1
2442045	DHX37	c.2221T>A	p.Leu741Met (p.L741M)	NM_032656.4 M	SNV	VUS	1 +	1

31 Results, 20 per Page

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