ClinVar Miner

List of variants reported as pathogenic for female reproductive organ cancer by OMIM

Included ClinVar conditions (52):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_001040108.2(MLH3):c.2221G>T (p.Val741Phe) rs28756990 0.02049
NM_004360.5(CDH1):c.1849G>A (p.Ala617Thr) rs33935154 0.01412
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp) rs36053993 0.00341
NM_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys) rs34612342 0.00168
NM_004360.5(CDH1):c.2512A>G (p.Ser838Gly) rs121964872 0.00011
NM_004360.5(CDH1):c.2131C>G (p.Leu711Val) rs121964871 0.00002
NM_004448.4(ERBB2):c.2570A>G (p.Asn857Ser) rs28933370 0.00001
NM_000141.5(FGFR2):c.1124A>G (p.Tyr375Cys) rs121913478
NM_000141.5(FGFR2):c.755C>G (p.Ser252Trp) rs79184941
NM_000142.5(FGFR3):c.746C>G (p.Ser249Cys) rs121913483
NM_000314.8(PTEN):c.253+1G>A rs587776667
NM_000546.6(TP53):c.747G>T (p.Arg249Ser) rs28934571
NM_001012393.5(OPCML):c.263C>G (p.Pro88Arg) rs137852691
NM_001040108.2(MLH3):c.885del (p.His296fs) rs1431264077
NM_001382430.1(AKT1):c.49G>A (p.Glu17Lys) rs121434592
NM_001904.4(CTNNB1):c.110C>G (p.Ser37Cys) rs121913403
NM_002439.5(MSH3):c.1148del (p.Lys383fs) rs587776701
NM_012250.6(RRAS2):c.215A>T (p.Gln72Leu) rs113954997
NM_013988.3:c.(?_171+24726)_(424+11283_?)del

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