ClinVar Miner

List of variants in gene TJP2 studied for Hypercholanemia, familial 1; Cholestasis, progressive familial intrahepatic, 4

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_004817.4(TJP2):c.2992-8C>T rs143965233 0.00327
NM_004817.4(TJP2):c.185C>T (p.Thr62Met) rs138241615 0.00168
NM_004817.4(TJP2):c.1258C>T (p.Arg420Cys) rs199761505 0.00034
NM_004817.4(TJP2):c.3371C>T (p.Thr1124Met) rs376663560 0.00033
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_004817.4(TJP2):c.3407+3A>G rs727505291 0.00007
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_004817.4(TJP2):c.1056+2T>C rs1278244243 0.00001
NM_004817.4(TJP2):c.1213_1215del (p.Ile405del) rs727504461

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