ClinVar Miner

List of variants studied for cholestasis by Mendelics

Included ClinVar conditions (33):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_000443.4(ABCB4):c.1769G>A (p.Arg590Gln) rs45575636 0.00625
NM_000443.4(ABCB4):c.2800G>A (p.Ala934Thr) rs61730509 0.00389
NM_001374385.1(ATP8B1):c.208G>A (p.Asp70Asn) rs34719006 0.00245
NM_000443.4(ABCB4):c.101C>T (p.Thr34Met) rs142794414 0.00123
NM_000443.4(ABCB4):c.2144C>T (p.Thr715Ile) rs138773456 0.00073
NM_003742.4(ABCB11):c.1772A>G (p.Asn591Ser) rs11568367 0.00054
NM_000443.4(ABCB4):c.2784-12T>C rs201498350 0.00019
NM_000443.4(ABCB4):c.1529A>G (p.Asn510Ser) rs375315619 0.00009
NM_001374385.1(ATP8B1):c.1982T>C (p.Ile661Thr) rs121909100 0.00009
NM_000443.4(ABCB4):c.2217T>G (p.Phe739Leu) rs143456575 0.00004
NM_000443.4(ABCB4):c.1714C>T (p.Gln572Ter) rs1458423947 0.00001
NM_000443.4(ABCB4):c.1745G>A (p.Arg582Gln) rs760153272 0.00001
NM_000443.4(ABCB4):c.431G>A (p.Arg144Gln) rs863225299 0.00001
NM_000443.4(ABCB4):c.475C>T (p.Arg159Ter) rs377160065 0.00001
NM_001371395.1(USP53):c.1687del (p.Ser563fs) rs1263067327 0.00001
NM_000443.4(ABCB4):c.1119+5G>A rs1584750653
NM_000443.4(ABCB4):c.1210C>G (p.Pro404Ala) rs863225298
NM_000443.4(ABCB4):c.1322T>G (p.Leu441Arg) rs1584747270
NM_000443.4(ABCB4):c.1553del (p.Leu518fs) rs1562976061
NM_000443.4(ABCB4):c.344+4A>G rs1584768888
NM_000443.4(ABCB4):c.3724dup (p.Ile1242fs) rs1562945221
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_001388308.1(KIF12):c.1024G>A (p.Val342Met) rs564811653
NM_003742.4(ABCB11):c.2076-1G>A rs2105947080
NM_003742.4(ABCB11):c.2179-1G>A rs2105935255
NM_003742.4(ABCB11):c.257T>A (p.Met86Lys) rs1258387740
NM_003742.4(ABCB11):c.3174del (p.Gln1058fs) rs2105891349
NM_018849.2(ABCB4):c.[431G>A;1210C>G]

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