ClinVar Miner

List of variants in gene DHCR7 reported as likely pathogenic by Invitae

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Total variants: 12
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NM_001360.2(DHCR7):c.1057del (p.Val353fs) rs759720450
NM_001360.2(DHCR7):c.1138T>C (p.Cys380Arg) rs373306653
NM_001360.2(DHCR7):c.1396G>A (p.Val466Met) rs760428437
NM_001360.2(DHCR7):c.385_412+5del rs746482788
NM_001360.2(DHCR7):c.438T>G (p.Asn146Lys) rs949177
NM_001360.2(DHCR7):c.440G>A (p.Gly147Asp) rs777425801
NM_001360.2(DHCR7):c.627-1G>A rs1057517210
NM_001360.2(DHCR7):c.839A>G (p.Tyr280Cys) rs121909766
NM_001360.2(DHCR7):c.852C>A (p.Phe284Leu) rs184297154
NM_001360.3(DHCR7):c.820_825del (p.Asn274_Val275del)
NM_001360.3(DHCR7):c.952T>A (p.Tyr318Asn)

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