ClinVar Miner

List of variants in gene DHCR7 reported as uncertain significance by CeGaT Center for Human Genetics Tuebingen

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Gene type:
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Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001360.3(DHCR7):c.199G>A (p.Ala67Thr) rs143999854 0.00093
NM_001360.3(DHCR7):c.719A>G (p.Asn240Ser) rs148609143 0.00019
NM_001360.3(DHCR7):c.1254C>T (p.Tyr418=) rs1949267339
NM_001360.3(DHCR7):c.1270G>A (p.Gly424Ser) rs368150818
NM_001360.3(DHCR7):c.730G>A (p.Gly244Arg) rs121909764

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