ClinVar Miner

List of variants reported as pathogenic for Uterine corpus cancer

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_000051.4(ATM):c.8147T>C (p.Val2716Ala) rs587782652 0.00005
NM_000059.4(BRCA2):c.7878G>C (p.Trp2626Cys) rs80359013 0.00001
NM_000059.3(BRCA2):c.2808_2811del (p.Ala938Profs) rs80359351
NM_000059.4(BRCA2):c.658_659del (p.Val220fs) rs80359604
NM_000179.3(MSH6):c.2759del (p.Lys920fs) rs1114167794
NM_000179.3(MSH6):c.741dup (p.Arg248fs) rs267608041
NM_000251.3(MSH2):c.1676del (p.Ser558_Leu559insTer) rs63750633
NM_000251.3(MSH2):c.1720del (p.Gln574fs) rs63751299
NM_007194.4(CHEK2):c.894T>G (p.Tyr298Ter) rs876659519
NM_007294.4(BRCA1):c.5510G>A (p.Trp1837Ter) rs80357307
NM_024675.4(PALB2):c.761C>G (p.Ser254Ter) rs864622695
NM_032043.3(BRIP1):c.2038_2039dup (p.Leu680fs) rs587778134

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