ClinVar Miner

List of variants reported as likely benign for cholestasis by Illumina Laboratory Services, Illumina

Included ClinVar conditions (33):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_000443.4(ABCB4):c.147C>T (p.Ser49=) rs8187789 0.01759
NM_000443.4(ABCB4):c.523A>G (p.Thr175Ala) rs58238559 0.00910
NM_001374385.1(ATP8B1):c.134A>C (p.Asn45Thr) rs146599962 0.00657
NM_001374385.1(ATP8B1):c.1177A>G (p.Ile393Val) rs34315917 0.00388
NM_032830.3(UTP4):c.615C>T (p.Ser205=) rs144266389 0.00376
NM_001374385.1(ATP8B1):c.*827T>A rs182819607 0.00356
NM_001374385.1(ATP8B1):c.246A>G (p.Thr82=) rs34623939 0.00337
NM_032830.3(UTP4):c.1164+8A>G rs112053857 0.00330
NM_000443.4(ABCB4):c.2952A>G (p.Ala984=) rs45574932 0.00325
NM_003742.4(ABCB11):c.2943C>T (p.Tyr981=) rs145720664 0.00273
NM_003742.4(ABCB11):c.*237T>C rs548624200 0.00214
NM_000443.4(ABCB4):c.1893+6T>C rs8187798 0.00175
NM_001374385.1(ATP8B1):c.150A>G (p.Glu50=) rs137973298 0.00146
NM_003742.4(ABCB11):c.1791G>T (p.Val597=) rs11568371 0.00145
NM_001374385.1(ATP8B1):c.2021T>C (p.Met674Thr) rs35470719 0.00121
NM_003742.4(ABCB11):c.*440G>A rs79130028 0.00112
NM_003742.4(ABCB11):c.408C>T (p.Ser136=) rs183214630 0.00092
NM_003742.4(ABCB11):c.2101T>C (p.Ser701Pro) rs150572999 0.00079
NM_000443.4(ABCB4):c.696C>T (p.Ala232=) rs8187791 0.00068
NM_000443.4(ABCB4):c.2324C>T (p.Thr775Met) rs148052192 0.00039
NM_000443.4(ABCB4):c.1952C>A (p.Thr651Asn) rs45476795 0.00032
NM_032830.3(UTP4):c.1287+4A>G rs201384904 0.00024
NM_001374385.1(ATP8B1):c.*1553T>G rs559805305 0.00004
NM_003742.4(ABCB11):c.3411+10G>A rs188996270 0.00003
NM_032830.3(UTP4):c.635T>C (p.Val212Ala) rs538321215 0.00002
NM_001374385.1(ATP8B1):c.*900G>A rs4940950
NM_001374385.1(ATP8B1):c.2098-17_2098-15dup rs34422185
NM_001374385.1(ATP8B1):c.2098-19_2098-15dup rs34422185
NM_001374385.1(ATP8B1):c.2098-21_2098-15dup rs34422185
NM_003742.4(ABCB11):c.1124A>G (p.Asn375Ser) rs572222881
NM_003742.4(ABCB11):c.896G>A (p.Arg299Lys) rs2287617

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