ClinVar Miner

List of variants in gene ATP8B1 reported as uncertain significance for abdominal and pelvic region disorder

Included ClinVar conditions (902):
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Gene type:
ClinVar version:
Total variants: 23
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HGVS dbSNP
NM_005603.6(ATP8B1):c.-22-9T>C rs35671095
NM_005603.6(ATP8B1):c.-32C>A rs886054015
NM_005603.6(ATP8B1):c.-48C>T rs150844949
NM_005603.6(ATP8B1):c.-62C>T rs886054016
NM_005603.6(ATP8B1):c.1029+5T>C rs200663890
NM_005603.6(ATP8B1):c.1072G>A (p.Gly358Ser) rs193204986
NM_005603.6(ATP8B1):c.1177A>G (p.Ile393Val) rs34315917
NM_005603.6(ATP8B1):c.1429+14G>A rs886054012
NM_005603.6(ATP8B1):c.1473+2T>C rs1568195257
NM_005603.6(ATP8B1):c.150A>G (p.Glu50=) rs137973298
NM_005603.6(ATP8B1):c.1556G>A (p.Gly519Glu) rs886054011
NM_005603.6(ATP8B1):c.1681G>A (p.Ala561Thr) rs372806297
NM_005603.6(ATP8B1):c.1711G>A (p.Ala571Thr) rs35140429
NM_005603.6(ATP8B1):c.1888C>T (p.His630Tyr) rs202100663
NM_005603.6(ATP8B1):c.1981A>G (p.Ile661Val) rs1555689790
NM_005603.6(ATP8B1):c.2052C>T (p.Asp684=) rs370484798
NM_005603.6(ATP8B1):c.208G>A (p.Asp70Asn) rs34719006
NM_005603.6(ATP8B1):c.222C>A (p.His74Gln) rs145214384
NM_005603.6(ATP8B1):c.340G>C (p.Glu114Gln) rs753142591
NM_005603.6(ATP8B1):c.394-7C>T rs370252509
NM_005603.6(ATP8B1):c.494C>G (p.Ala165Gly) rs886054014
NM_005603.6(ATP8B1):c.530C>T (p.Thr177Met) rs369011228
NM_005603.6(ATP8B1):c.782-5A>T rs886054013

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