ClinVar Miner

List of variants in gene MSH2 reported as pathogenic by CeGaT Center for Human Genetics Tuebingen

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Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_000251.3(MSH2):c.942+3A>T rs193922376 0.00072
GRCh37/hg19 2p21(chr2:47630331-47672796)x1
GRCh37/hg19 2p21(chr2:47707835-47710088)x1
NM_000251.3(MSH2):c.1119del (p.Arg373fs) rs63750516
NM_000251.3(MSH2):c.1147C>T (p.Arg383Ter) rs63749849
NM_000251.3(MSH2):c.1222dup (p.Tyr408fs) rs63751142
NM_000251.3(MSH2):c.1276+1G>A rs267607950
NM_000251.3(MSH2):c.1405del (p.Leu469_Val470insTer) rs1060502027
NM_000251.3(MSH2):c.212-1G>A rs267607914
NM_000251.3(MSH2):c.289C>T (p.Gln97Ter) rs63750970
NM_000251.3(MSH2):c.645+2T>C rs876658996
NM_000251.3(MSH2):c.788_789del (p.Asn263fs) rs63751614
NM_000251.3(MSH2):c.942+1G>T rs587779193
NM_000251.3(MSH2):c.943-1G>C rs12476364

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