ClinVar Miner

List of variants studied for Hepatocellular carcinoma

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Total variants: 42
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HGVS dbSNP gnomAD frequency
NM_000376.3(VDR):c.1025-49G>T rs7975232 0.54878
NM_000376.3(VDR):c.1056T>C (p.Ile352=) rs731236 0.33694
NM_001904.4(CTNNB1):c.860A>G (p.Asn287Ser) rs35288908 0.00086
NM_000077.5(CDKN2A):c.151-4G>C rs529380972 0.00055
NM_198253.3(TERT):c.887A>C (p.His296Pro) rs778187343 0.00007
NM_000038.6(APC):c.8332G>T (p.Ala2778Ser) rs587778046 0.00006
NM_000143.4(FH):c.1127A>C (p.Gln376Pro) rs200796606 0.00005
NM_000876.4(IGF2R):c.5691C>T (p.Thr1897=) rs139019277 0.00003
NM_000038.6(APC):c.2527A>G (p.Ser843Gly) rs536223189 0.00001
NM_003011.4(SET):c.701A>G (p.Glu234Gly) rs768759521 0.00001
NM_003502.4(AXIN1):c.1118G>A (p.Arg373His) rs138744096 0.00001
NM_003502.4(AXIN1):c.2167C>T (p.Arg723Ter) rs1567261095 0.00001
NM_000038.6(APC):c.1695del (p.Val566fs) rs397514032
NM_000376.3(VDR):c.1024+283G>A rs1544410
NM_000535.7(PMS2):c.1144+250_2175-1948del
NM_000546.6(TP53):c.469G>T (p.Val157Phe) rs121912654
NM_000546.6(TP53):c.747G>T (p.Arg249Ser) rs28934571
NM_000876.4(IGF2R):c.4346G>T (p.Gly1449Val) rs121434587
NM_000876.4(IGF2R):c.4391G>A (p.Gly1464Glu) rs121434588
NM_000876.4(IGF2R):c.50G>C (p.Arg17Pro) rs2115160662
NM_000876.4(IGF2R):c.52_58del (p.Arg18fs) rs1783569729
NM_001372051.1(CASP8):c.1228_1229del (p.Val410fs) rs587776665
NM_001904.4(CTNNB1):c.1041_1044del (p.Val349fs) rs1575320216
NM_001904.4(CTNNB1):c.133T>C (p.Ser45Pro) rs121913407
NM_001904.4(CTNNB1):c.134C>T (p.Ser45Phe) rs121913409
NM_001904.4(CTNNB1):c.1494dup (p.His499fs) rs1553631896
NM_001904.4(CTNNB1):c.1530dup (p.Val511fs) rs1575330336
NM_001904.4(CTNNB1):c.999C>A (p.Tyr333Ter) rs778624338
NM_002485.5(NBN):c.657_661del (p.Lys219fs) rs587776650
NM_003502.4(AXIN1):c.1085_1116del (p.Val362fs) rs587776627
NM_005732.4(RAD50):c.1875C>G (p.Tyr625Ter) rs149201802
NM_005732.4(RAD50):c.2046del (p.Val683fs) rs2479651900
NM_005732.4(RAD50):c.2524+1_2524+9del rs2479666526
NM_006218.4(PIK3CA):c.1634A>C (p.Glu545Ala) rs121913274
NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg) rs121913279
NM_006218.4(PIK3CA):c.3203dup (p.Asn1068fs) rs587776802
NM_020975.6(RET):c.2304G>C (p.Glu768Asp) rs78014899
NM_198253.3(TERT):c.2004G>C (p.Glu668Asp) rs1554040964
NM_198253.3(TERT):c.200C>T (p.Ala67Val) rs1554043124
NM_198253.3(TERT):c.337dup (p.Glu113fs) rs1554043088
NM_198253.3(TERT):c.578C>T (p.Pro193Leu) rs751762765
PDGRL, 2-BP DEL

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