ClinVar Miner

List of variants in gene DHCR7 reported by ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories

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Total variants: 17
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HGVS dbSNP
NM_001360.2(DHCR7):c.1158T>C (p.Asp386=) rs760241
NM_001360.2(DHCR7):c.1272C>T (p.Gly424=) rs909217
NM_001360.2(DHCR7):c.1341C>T (p.Asp447=) rs139721775
NM_001360.2(DHCR7):c.189G>A (p.Gln63=) rs1044482
NM_001360.2(DHCR7):c.207T>C (p.Thr69=) rs1790334
NM_001360.2(DHCR7):c.231C>T (p.Thr77=) rs4316537
NM_001360.2(DHCR7):c.25A>T (p.Ile9Phe) rs115595829
NM_001360.2(DHCR7):c.28C>G (p.Pro10Ala) rs139166382
NM_001360.2(DHCR7):c.296T>C (p.Leu99Pro) rs104886041
NM_001360.2(DHCR7):c.321+10C>T rs377108406
NM_001360.2(DHCR7):c.321+34C>A rs76865413
NM_001360.2(DHCR7):c.438T>C (p.Asn146=) rs949177
NM_001360.2(DHCR7):c.506C>T (p.Ser169Leu) rs80338855
NM_001360.2(DHCR7):c.58A>G (p.Asn20Asp) rs772572550
NM_001360.2(DHCR7):c.626+15G>A rs736894
NM_001360.2(DHCR7):c.627-29T>G rs74742701
NM_001360.2(DHCR7):c.964-5C>T rs767108226

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