ClinVar Miner

List of variants in gene combination ATP8B1, LOC100505549 reported as likely benign for abdominal and pelvic region disorder

Included ClinVar conditions (902):
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Total variants: 12
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HGVS dbSNP
NM_005603.6(ATP8B1):c.*1723G>A rs11543269
NM_005603.6(ATP8B1):c.*1940A>G rs117693241
NM_005603.6(ATP8B1):c.*888C>G rs149436273
NM_005603.6(ATP8B1):c.2098-17_2098-15dup rs34422185
NM_005603.6(ATP8B1):c.2098-19_2098-15dup rs34422185
NM_005603.6(ATP8B1):c.2098-21_2098-15dup rs34422185
NM_005603.6(ATP8B1):c.2855G>A (p.Arg952Gln) rs12968116
NM_005603.6(ATP8B1):c.2931+14G>A rs34451179
NM_005603.6(ATP8B1):c.3016-9C>A rs34729241
NM_005603.6(ATP8B1):c.3477C>T (p.Pro1159=) rs117182648
NM_005603.6(ATP8B1):c.3531+8G>T rs34027711
NM_005603.6(ATP8B1):c.3744C>A (p.Thr1248=) rs2271771

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