ClinVar Miner

List of variants in gene ATP8B1 reported by Mendelics

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Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001374385.1(ATP8B1):c.208G>A (p.Asp70Asn) rs34719006 0.00245
NM_001374385.1(ATP8B1):c.1982T>C (p.Ile661Thr) rs121909100 0.00009
NM_001374385.1(ATP8B1):c.173del (p.Phe58fs) rs1599166106
NM_001374385.1(ATP8B1):c.3015+1G>T rs1599069873
NM_001374385.1(ATP8B1):c.3394T>G (p.Phe1132Val) rs1599066459
NM_001374385.1(ATP8B1):c.3702dup (p.Asp1235Ter) rs2122524814

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