ClinVar Miner

List of variants in gene DHCR7 reported as uncertain significance by Ambry Genetics

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Total variants: 18
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HGVS dbSNP
NM_001360.2(DHCR7):c.1012G>A (p.Val338Met) rs72954276
NM_001360.2(DHCR7):c.1018G>A (p.Val340Ile) rs148081697
NM_001360.2(DHCR7):c.1087C>T (p.Arg363Cys)
NM_001360.2(DHCR7):c.1091C>T (p.Thr364Met) rs567600444
NM_001360.2(DHCR7):c.1099C>T (p.Arg367Cys) rs531038145
NM_001360.2(DHCR7):c.122C>T (p.Ala41Val) rs761265690
NM_001360.2(DHCR7):c.1349G>A (p.Arg450His) rs542266962
NM_001360.2(DHCR7):c.199G>A (p.Ala67Thr) rs143999854
NM_001360.2(DHCR7):c.356A>G (p.His119Arg) rs28938174
NM_001360.2(DHCR7):c.376G>A (p.Val126Ile) rs143587828
NM_001360.2(DHCR7):c.461C>G (p.Thr154Arg) rs143312232
NM_001360.2(DHCR7):c.485C>T (p.Ala162Val) rs398123606
NM_001360.2(DHCR7):c.560T>C (p.Leu187Pro) rs1565587998
NM_001360.2(DHCR7):c.616G>A (p.Ala206Thr)
NM_001360.2(DHCR7):c.719A>G (p.Asn240Ser) rs148609143
NM_001360.2(DHCR7):c.770C>T (p.Ala257Val) rs770925697
NM_001360.2(DHCR7):c.841G>A (p.Val281Met) rs398123607
NM_001360.2(DHCR7):c.928G>C (p.Asp310His)

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