ClinVar Miner

List of variants studied for cholestasis, intrahepatic, of pregnancy, 1 by Genome-Nilou Lab

Included ClinVar conditions (3):
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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_001374385.1(ATP8B1):c.3454G>A (p.Ala1152Thr) rs222581 0.99879
NM_001374385.1(ATP8B1):c.696T>C (p.Asp232=) rs319438 0.99384
NM_001374385.1(ATP8B1):c.1430-89C>T rs319459 0.99232
NM_001374385.1(ATP8B1):c.699-52C>T rs319442 0.99086
NM_001374385.1(ATP8B1):c.811A>C (p.Arg271=) rs319443 0.99084
NM_001374385.1(ATP8B1):c.698+20C>T rs319439 0.42536
NM_001374385.1(ATP8B1):c.1932+44C>T rs317838 0.39951
NM_001374385.1(ATP8B1):c.3532-15C>T rs12958967 0.19806
NM_001374385.1(ATP8B1):c.3531+8G>T rs34027711 0.12129
NM_001374385.1(ATP8B1):c.1430-126_1430-124del rs10594129

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