ClinVar Miner

List of variants studied for cardiovascular cancer by Key Laboratory of Carcinogenesis and Cancer Invasion, Central South University

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_000546.6(TP53):c.743G>A (p.Arg248Gln) rs11540652 0.00002
NM_000546.6(TP53):c.659A>G (p.Tyr220Cys) rs121912666 0.00001
NM_000546.6(TP53):c.1031T>C (p.Leu344Pro) rs121912662
NM_000546.6(TP53):c.313G>A (p.Gly105Ser) rs1060501195
NM_000546.6(TP53):c.329G>T (p.Arg110Leu) rs11540654
NM_000546.6(TP53):c.378C>G (p.Tyr126Ter) rs1567554500
NM_000546.6(TP53):c.404G>T (p.Cys135Phe) rs587781991
NM_000546.6(TP53):c.413C>T (p.Ala138Val) rs750600586
NM_000546.6(TP53):c.437G>A (p.Trp146Ter) rs1206165503
NM_000546.6(TP53):c.527G>A (p.Cys176Tyr) rs786202962
NM_000546.6(TP53):c.538G>T (p.Glu180Ter) rs879253911
NM_000546.6(TP53):c.574C>T (p.Gln192Ter) rs866380588
NM_000546.6(TP53):c.580C>T (p.Leu194Phe) rs587780071
NM_000546.6(TP53):c.652del (p.Val218fs)
NM_000546.6(TP53):c.661G>T (p.Glu221Ter) rs786201592
NM_000546.6(TP53):c.722_724del (p.Ser241del)
NM_000546.6(TP53):c.734G>C (p.Gly245Ala) rs121912656
NM_000546.6(TP53):c.747G>T (p.Arg249Ser) rs28934571
NM_000546.6(TP53):c.993+1G>T rs11575997

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