ClinVar Miner

List of variants reported as likely pathogenic for Endometrial Endometrioid Adenocarcinoma, Variant with Squamous Differentiation by Database of Curated Mutations (DoCM)

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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_000141.5(FGFR2):c.1605G>A (p.Met535Ile) rs1057519800
NM_000141.5(FGFR2):c.1605G>C (p.Met535Ile) rs1057519800
NM_000141.5(FGFR2):c.1605G>T (p.Met535Ile) rs1057519800
NM_000141.5(FGFR2):c.1611G>A (p.Met537Ile) rs1057519799
NM_000141.5(FGFR2):c.1611G>C (p.Met537Ile) rs1057519799
NM_000141.5(FGFR2):c.1611G>T (p.Met537Ile) rs1057519799
NM_000141.5(FGFR2):c.1639A>G (p.Ile547Val) rs1057519798
NM_000141.5(FGFR2):c.1645A>C (p.Asn549His) rs1057519045
NM_000141.5(FGFR2):c.1647T>A (p.Asn549Lys) rs121913476
NM_000141.5(FGFR2):c.1647T>G (p.Asn549Lys) rs121913476
NM_000141.5(FGFR2):c.1690G>A (p.Val564Ile) rs1057519797
NM_000141.5(FGFR2):c.1694A>G (p.Glu565Gly) rs121918506
NM_000141.5(FGFR2):c.1849T>A (p.Leu617Met) rs1057519796
NM_000141.5(FGFR2):c.1975A>G (p.Lys659Glu) rs1057519795
NM_000141.5(FGFR2):c.755C>G (p.Ser252Trp) rs79184941
NM_001382430.1(AKT1):c.49G>A (p.Glu17Lys) rs121434592
NM_005027.4(PIK3R2):c.1681A>G (p.Asn561Asp) rs1057519801
NM_005228.5(EGFR):c.2068G>A (p.Glu690Lys) rs1057519794

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