ClinVar Miner

List of variants in gene ATP8B1 reported as pathogenic by Eurofins NTD LLC (GA)

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_001374385.1(ATP8B1):c.1982T>C (p.Ile661Thr) rs121909100 0.00009
NM_001374385.1(ATP8B1):c.923G>T (p.Gly308Val) rs111033609 0.00006
NM_001374385.1(ATP8B1):c.2286-2A>G rs377132123 0.00005
NM_001374385.1(ATP8B1):c.1799G>A (p.Arg600Gln) rs1202682161 0.00001
NM_001374385.1(ATP8B1):c.1993G>T (p.Glu665Ter) rs515726137 0.00001
NM_001374385.1(ATP8B1):c.2097+2T>C rs387906381 0.00001
NM_001374385.1(ATP8B1):c.279G>A (p.Ala93=) rs761575295 0.00001
NM_001374385.1(ATP8B1):c.2854C>T (p.Arg952Ter) rs765889649 0.00001
NM_001374385.1(ATP8B1):c.1660G>A (p.Asp554Asn) rs121909101
NM_001374385.1(ATP8B1):c.2453_2456del (p.Asn818fs) rs1568183268
NM_001374385.1(ATP8B1):c.2605del (p.Thr869fs) rs1568183127
NM_001374385.1(ATP8B1):c.3410C>G (p.Ser1137Ter) rs74414989
NM_001374385.1(ATP8B1):c.614dup (p.Asn205fs) rs761784230

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