ClinVar Miner

List of variants reported as likely pathogenic for cardiovascular cancer

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 97
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HGVS dbSNP gnomAD frequency
NM_000516.7(GNAS):c.601C>T (p.Arg201Cys) rs11554273 0.00001
NM_000516.7(GNAS):c.602G>A (p.Arg201His) rs121913495 0.00001
NM_000546.6(TP53):c.374C>T (p.Thr125Met) rs786201057 0.00001
NM_000546.6(TP53):c.395A>G (p.Lys132Arg) rs1057519996 0.00001
NM_000546.6(TP53):c.542G>A (p.Arg181His) rs397514495 0.00001
NM_000546.6(TP53):c.824G>A (p.Cys275Tyr) rs863224451 0.00001
NM_004985.5(KRAS):c.57G>C (p.Leu19Phe) rs121913538 0.00001
NM_000516.7(GNAS):c.602G>T (p.Arg201Leu) rs121913495
NM_000546.6(TP53):c.1031T>C (p.Leu344Pro) rs121912662
NM_000546.6(TP53):c.1140del (p.His380fs) rs1555524108
NM_000546.6(TP53):c.245_260del (p.Pro82fs)
NM_000546.6(TP53):c.373A>C (p.Thr125Pro) rs1057520003
NM_000546.6(TP53):c.374C>A (p.Thr125Lys) rs786201057
NM_000546.6(TP53):c.374C>G (p.Thr125Arg) rs786201057
NM_000546.6(TP53):c.380C>T (p.Ser127Phe) rs730881999
NM_000546.6(TP53):c.388C>G (p.Leu130Val) rs863224683
NM_000546.6(TP53):c.394A>C (p.Lys132Gln) rs747342068
NM_000546.6(TP53):c.394A>G (p.Lys132Glu) rs747342068
NM_000546.6(TP53):c.395A>C (p.Lys132Thr) rs1057519996
NM_000546.6(TP53):c.395A>T (p.Lys132Met) rs1057519996
NM_000546.6(TP53):c.396G>C (p.Lys132Asn) rs866775781
NM_000546.6(TP53):c.403T>A (p.Cys135Ser) rs1057519975
NM_000546.6(TP53):c.403T>C (p.Cys135Arg) rs1057519975
NM_000546.6(TP53):c.403T>G (p.Cys135Gly) rs1057519975
NM_000546.6(TP53):c.404G>A (p.Cys135Tyr) rs587781991
NM_000546.6(TP53):c.404G>T (p.Cys135Phe) rs587781991
NM_000546.6(TP53):c.405C>G (p.Cys135Trp) rs1057519976
NM_000546.6(TP53):c.427G>A (p.Val143Met) rs587782620
NM_000546.6(TP53):c.470T>C (p.Val157Ala) rs1131691023
NM_000546.6(TP53):c.476C>T (p.Ala159Val) rs1555526131
NM_000546.6(TP53):c.481G>A (p.Ala161Thr) rs193920817
NM_000546.6(TP53):c.487T>C (p.Tyr163His) rs786203436
NM_000546.6(TP53):c.517G>A (p.Val173Met) rs876660754
NM_000546.6(TP53):c.517G>T (p.Val173Leu) rs876660754
NM_000546.6(TP53):c.518T>A (p.Val173Glu) rs1057519747
NM_000546.6(TP53):c.518T>C (p.Val173Ala) rs1057519747
NM_000546.6(TP53):c.518T>G (p.Val173Gly) rs1057519747
NM_000546.6(TP53):c.533A>C (p.His178Pro) rs1555526004
NM_000546.6(TP53):c.535C>G (p.His179Asp) rs587780070
NM_000546.6(TP53):c.536A>T (p.His179Leu) rs1057519991
NM_000546.6(TP53):c.559+1G>A rs1131691042
NM_000546.6(TP53):c.637C>G (p.Arg213Gly) rs397516436
NM_000546.6(TP53):c.638G>A (p.Arg213Gln) rs587778720
NM_000546.6(TP53):c.638G>C (p.Arg213Pro) rs587778720
NM_000546.6(TP53):c.638G>T (p.Arg213Leu) rs587778720
NM_000546.6(TP53):c.644G>A (p.Ser215Asn) rs587782177
NM_000546.6(TP53):c.646G>A (p.Val216Met) rs730882025
NM_000546.6(TP53):c.658T>C (p.Tyr220His) rs530941076
NM_000546.6(TP53):c.700T>A (p.Tyr234Asn) rs864622237
NM_000546.6(TP53):c.700T>C (p.Tyr234His) rs864622237
NM_000546.6(TP53):c.700T>G (p.Tyr234Asp) rs864622237
NM_000546.6(TP53):c.701A>C (p.Tyr234Ser) rs587780073
NM_000546.6(TP53):c.701A>G (p.Tyr234Cys) rs587780073
NM_000546.6(TP53):c.711G>T (p.Met237Ile) rs587782664
NM_000546.6(TP53):c.715A>G (p.Asn239Asp) rs876660807
NM_000546.6(TP53):c.717C>G (p.Asn239Lys) rs1057522275
NM_000546.6(TP53):c.717del (p.Asn239fs)
NM_000546.6(TP53):c.722C>T (p.Ser241Phe) rs28934573
NM_000546.6(TP53):c.722_728del (p.Ser241fs)
NM_000546.6(TP53):c.743G>T (p.Arg248Leu) rs11540652
NM_000546.6(TP53):c.799C>T (p.Arg267Trp) rs55832599
NM_000546.6(TP53):c.809T>G (p.Phe270Cys) rs1057519986
NM_000546.6(TP53):c.817C>A (p.Arg273Ser) rs121913343
NM_000546.6(TP53):c.818G>A (p.Arg273His) rs28934576
NM_000546.6(TP53):c.818G>C (p.Arg273Pro) rs28934576
NM_000546.6(TP53):c.818G>T (p.Arg273Leu) rs28934576
NM_000546.6(TP53):c.823T>C (p.Cys275Arg) rs1057519983
NM_000546.6(TP53):c.824G>C (p.Cys275Ser) rs863224451
NM_000546.6(TP53):c.824G>T (p.Cys275Phe) rs863224451
NM_000546.6(TP53):c.830G>A (p.Cys277Tyr) rs763098116
NM_000546.6(TP53):c.842A>C (p.Asp281Ala) rs587781525
NM_001904.4(CTNNB1):c.100G>C (p.Gly34Arg) rs121913399
NM_001904.4(CTNNB1):c.101G>A (p.Gly34Glu) rs28931589
NM_001904.4(CTNNB1):c.101G>C (p.Gly34Ala) rs28931589
NM_001904.4(CTNNB1):c.101G>T (p.Gly34Val) rs28931589
NM_001904.4(CTNNB1):c.121A>G (p.Thr41Ala) rs121913412
NM_001904.4(CTNNB1):c.122C>A (p.Thr41Asn) rs121913413
NM_001904.4(CTNNB1):c.122C>T (p.Thr41Ile) rs121913413
NM_001904.4(CTNNB1):c.133T>C (p.Ser45Pro) rs121913407
NM_001904.4(CTNNB1):c.134C>A (p.Ser45Tyr) rs121913409
NM_001904.4(CTNNB1):c.134C>G (p.Ser45Cys) rs121913409
NM_001904.4(CTNNB1):c.134C>T (p.Ser45Phe) rs121913409
NM_002107.7(H3-3A):c.100G>C (p.Gly34Arg) rs1057519902
NM_002524.5(NRAS):c.181C>A (p.Gln61Lys) rs121913254
NM_002524.5(NRAS):c.182A>C (p.Gln61Pro) rs11554290
NM_002524.5(NRAS):c.182A>G (p.Gln61Arg) rs11554290
NM_002524.5(NRAS):c.182A>T (p.Gln61Leu) rs11554290
NM_002524.5(NRAS):c.183A>T (p.Gln61His) rs121913255
NM_004333.6(BRAF):c.1780G>A (p.Asp594Asn) rs397516896
NM_004333.6(BRAF):c.1780G>C (p.Asp594His) rs397516896
NM_004333.6(BRAF):c.1781A>G (p.Asp594Gly) rs121913338
NM_006218.4(PIK3CA):c.3139C>T (p.His1047Tyr) rs121913281
NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg) rs121913279
NM_006218.4(PIK3CA):c.3140A>T (p.His1047Leu) rs121913279
NM_006218.4(PIK3CA):c.3141T>G (p.His1047Gln) rs1057519932
NM_033360.4(KRAS):c.57G>T (p.Leu19Phe) rs121913538
t(6;9)(q22.1;q34.3)

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