ClinVar Miner

List of variants reported as likely pathogenic for Carcinoma

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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_000245.4(MET):c.2975C>T (p.Thr992Ile) rs56391007 0.00911
NM_000245.4(MET):c.3274G>A (p.Val1092Ile) rs786202724 0.00001
NM_000142.5(FGFR3):c.1111A>T (p.Ser371Cys) rs121913484
NM_000142.5(FGFR3):c.1118A>G (p.Tyr373Cys) rs121913485
NM_000142.5(FGFR3):c.1172C>A (p.Ala391Glu) rs28931615
NM_000142.5(FGFR3):c.1943A>T (p.Tyr648Phe) rs587779383
NM_000142.5(FGFR3):c.1948A>G (p.Lys650Glu) rs78311289
NM_000142.5(FGFR3):c.2089G>T (p.Gly697Cys) rs121913480
NM_000142.5(FGFR3):c.742C>T (p.Arg248Cys) rs121913482
NM_000142.5(FGFR3):c.746C>G (p.Ser249Cys) rs121913483
NM_000245.4(MET):c.3298A>T (p.Asn1100Tyr) rs1057520030
NM_000245.4(MET):c.3682G>A (p.Asp1228Asn) rs121913671
NM_000245.4(MET):c.3682G>C (p.Asp1228His) rs121913671
NM_000245.4(MET):c.3688T>C (p.Tyr1230His) rs121913247
NM_000245.4(MET):c.3689A>G (p.Tyr1230Cys) rs121913246
NM_000245.4(MET):c.3703T>G (p.Tyr1235Asp) rs1057519824
NM_000245.4(MET):c.3749T>C (p.Met1250Thr) rs121913245

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