ClinVar Miner

List of variants reported as uncertain significance for Holocarboxylase synthetase deficiency by Counsyl

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Total variants: 14
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HGVS dbSNP
NM_001352514.2(HLCS):c.1808A>G (p.Tyr603Cys) rs781603756
NM_001352514.2(HLCS):c.1850T>C (p.Leu617Ser) rs1261821166
NM_001352514.2(HLCS):c.1954G>C (p.Gly652Arg) rs1555885056
NM_001352514.2(HLCS):c.2152G>A (p.Asp718Asn) rs119103228
NM_001352514.2(HLCS):c.2268_2270del (p.Thr757del) rs1555882090
NM_001352514.2(HLCS):c.2341G>A (p.Asp781Asn) rs149399432
NM_001352514.2(HLCS):c.2501_2503dup (p.Val834dup) rs773191073
NM_001352514.2(HLCS):c.2519G>C (p.Gly840Ala) rs764148793
NM_001352514.2(HLCS):c.2567del (p.Pro856fs) rs1555880930
NM_001352514.2(HLCS):c.2587_2588del (p.Met863fs) rs1555880894
NM_001352514.2(HLCS):c.2611_2614del (p.Lys871fs) rs774356408
NM_001352514.2(HLCS):c.442A>C (p.Met148Leu) rs764841449
NM_001352514.2(HLCS):c.442A>G (p.Met148Val) rs764841449
NM_001352514.2(HLCS):c.941A>C (p.Tyr314Ser) rs778638155

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