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

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_001352514.2(HLCS):c.1808A>G (p.Tyr603Cys)	rs781603756	0.00002
NM_001352514.2(HLCS):c.2152G>A (p.Asp718Asn)	rs119103228	0.00002
NM_001352514.2(HLCS):c.1850T>C (p.Leu617Ser)	rs1261821166	0.00001
NM_001352514.2(HLCS):c.2519G>C (p.Gly840Ala)	rs764148793	0.00001
NM_001352514.2(HLCS):c.442A>G (p.Met148Val)	rs764841449	0.00001
NM_001352514.2(HLCS):c.1954G>C (p.Gly652Arg)	rs1555885056
NM_001352514.2(HLCS):c.2268_2270del (p.Thr757del)	rs1555882090
NM_001352514.2(HLCS):c.2501_2503dup (p.Val834dup)	rs773191073
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.941A>C (p.Tyr314Ser)	rs778638155

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