ClinVar Miner

List of variants in gene TJP2 studied for cholestasis

Included ClinVar conditions (33):
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Gene type:
ClinVar version:
Total variants: 66
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HGVS dbSNP gnomAD frequency
NM_004817.4(TJP2):c.239+19T>C rs2498417 0.90366
NM_004817.4(TJP2):c.1446C>A (p.Asp482Glu) rs2309428 0.77489
NM_004817.4(TJP2):c.2992-19G>A rs2282335 0.39706
NM_004817.4(TJP2):c.2715C>T (p.Thr905=) rs2282336 0.22650
NM_004817.4(TJP2):c.2727G>A (p.Ala909=) rs2095876 0.22643
NM_004817.4(TJP2):c.2180-34G>A rs2309421 0.22518
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.3068C>T (p.Ala1023Val) rs199767035 0.00029
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.2209G>A (p.Gly737Ser) rs139314808 0.00010
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.428T>C (p.Met143Thr) rs1011824757 0.00003
NM_004817.4(TJP2):c.1056+2T>C rs1278244243 0.00001
NM_004817.4(TJP2):c.1210G>A (p.Asp404Asn) rs1060499649 0.00001
NM_004817.4(TJP2):c.1594G>A (p.Gly532Arg) rs748191387 0.00001
NM_004817.4(TJP2):c.1894C>T (p.Arg632Ter) rs928915940 0.00001
NM_004817.4(TJP2):c.2173C>T (p.Arg725Ter) rs748671901 0.00001
NM_004817.4(TJP2):c.2372T>C (p.Leu791Pro) rs1563950539 0.00001
NM_004817.4(TJP2):c.2908C>T (p.Arg970Ter) rs749009273 0.00001
NC_000009.11:g.(71833276_71835802)_(71855064_71861605)dup
NM_004817.3(TJP2):c.3408_3573del166 (p.Ser1136Argfs)
NM_004817.4(TJP2):c.1000C>T (p.Arg334Ter) rs1182781290
NM_004817.4(TJP2):c.115-1G>A rs1588080680
NM_004817.4(TJP2):c.115-2A>C rs1588080674
NM_004817.4(TJP2):c.1157del (p.Gln386fs) rs2133314949
NM_004817.4(TJP2):c.1213_1215del (p.Ile405del) rs727504461
NM_004817.4(TJP2):c.1234C>T (p.Arg412Ter) rs777460754
NM_004817.4(TJP2):c.1243del (p.Ser415fs) rs1057518679
NM_004817.4(TJP2):c.1292C>G (p.Ser431Ter) rs1251192873
NM_004817.4(TJP2):c.1361del (p.Ala454fs) rs587777520
NM_004817.4(TJP2):c.1517_1520+8del
NM_004817.4(TJP2):c.1574T>C (p.Leu525Ser) rs1588117076
NM_004817.4(TJP2):c.1672-1G>A rs1588127136
NM_004817.4(TJP2):c.1672-27del rs202100183
NM_004817.4(TJP2):c.1765C>T (p.Gln589Ter)
NM_004817.4(TJP2):c.1855A>G (p.Thr619Ala)
NM_004817.4(TJP2):c.1992-2A>G rs587777521
NM_004817.4(TJP2):c.2020G>T (p.Ala674Ser) rs199605381
NM_004817.4(TJP2):c.2071C>T (p.Gln691Ter)
NM_004817.4(TJP2):c.2180-5T>G rs1588135086
NM_004817.4(TJP2):c.2188A>T (p.Lys730Ter)
NM_004817.4(TJP2):c.2327del (p.Arg775_Leu776insTer) rs1830379007
NM_004817.4(TJP2):c.236T>G (p.Leu79Arg) rs1588081022
NM_004817.4(TJP2):c.239+1G>A rs749237210
NM_004817.4(TJP2):c.2438dup (p.Asn814fs) rs776869985
NM_004817.4(TJP2):c.2524C>T (p.Gln842Ter) rs1830481830
NM_004817.4(TJP2):c.2645_2646dup (p.Val883fs) rs2133456150
NM_004817.4(TJP2):c.2667+3A>G
NM_004817.4(TJP2):c.2668-1G>T rs864321695
NM_004817.4(TJP2):c.3325G>T (p.Glu1109Ter) rs1225374015
NM_004817.4(TJP2):c.3484GAG[3] (p.Glu1165del) rs746080083
NM_004817.4(TJP2):c.570_574dup (p.Ser192fs) rs886041948
NM_004817.4(TJP2):c.619C>T (p.Gln207Ter)
NM_004817.4(TJP2):c.766_769del (p.Ala256fs) rs587777518
NM_004817.4(TJP2):c.782del (p.Tyr261fs) rs771690686
NM_004817.4(TJP2):c.813_814del (p.Ala273fs) rs1554660803
NM_004817.4(TJP2):c.817del (p.Ala273fs) rs864321697
NM_004817.4(TJP2):c.885del (p.Ser296fs) rs587777519

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