ClinVar Miner

List of variants reported as uncertain significance for cholestasis, progressive familial intrahepatic, 4 by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (4):
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ClinVar version:
Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_004817.4(TJP2):c.1258C>T (p.Arg420Cys) rs199761505 0.00034
NM_003742.4(ABCB11):c.1396C>A (p.Gln466Lys) rs200148505 0.00024
NM_003742.4(ABCB11):c.506G>A (p.Arg169His) rs200870815 0.00023
NM_004817.4(TJP2):c.2791G>A (p.Ala931Thr) rs139276234 0.00022
NM_004817.4(TJP2):c.3392C>T (p.Thr1131Met) rs139636763 0.00015
NM_004817.4(TJP2):c.2081G>A (p.Gly694Glu) rs201366118 0.00014
NM_003742.4(ABCB11):c.2092C>T (p.Arg698Cys) rs539087982 0.00012
NM_003742.4(ABCB11):c.235G>A (p.Val79Met) rs371965391 0.00011
NM_003742.4(ABCB11):c.2783G>A (p.Arg928Gln) rs200488448 0.00010
NM_003742.4(ABCB11):c.1774G>C (p.Glu592Gln) rs11568370 0.00009
NM_003742.4(ABCB11):c.3848C>T (p.Ala1283Val) rs372886308 0.00007
NM_003742.4(ABCB11):c.2125G>A (p.Glu709Lys) rs201800225 0.00006
NM_003742.4(ABCB11):c.1468A>G (p.Asn490Asp) rs553076953 0.00004
NM_004817.4(TJP2):c.1576G>T (p.Ala526Ser) rs746223152 0.00004
NM_004817.4(TJP2):c.1631C>T (p.Ala544Val) rs142684074 0.00004
NM_004817.4(TJP2):c.3557G>A (p.Arg1186Gln) rs201144827 0.00003
NM_003742.4(ABCB11):c.1271A>C (p.Asn424Thr) rs371091982 0.00001
NM_004817.4(TJP2):c.1213_1215del (p.Ile405del) rs727504461

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