ClinVar Miner

List of variants reported as likely pathogenic for Endometrial carcinoma

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Total variants: 9
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HGVS dbSNP
NC_000004.11:g.1737488_1808653dup
NM_000179.2(MSH6):c.1295T>C (p.Phe432Ser) rs750528093
NM_000179.2(MSH6):c.3416G>T (p.Gly1139Val) rs1316409501
NM_000179.3(MSH6):c.4001G>A (p.Arg1334Gln) rs267608122
NM_000251.2(MSH2):c.1045C>A (p.Pro349Thr) rs267607939
NM_000535.7(PMS2):c.134A>C (p.Asn45Thr) rs1554306353
NM_000535.7(PMS2):c.137G>A (p.Ser46Asn) rs121434629
NM_006218.4(PIK3CA):c.3074C>G (p.Thr1025Ser) rs1553826166
inv(2)(p21p23.2)

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