List of variants in gene MSH2 reported as pathogenic for DNA repair disease

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_000251.3(MSH2):c.1906G>C (p.Ala636Pro)	rs63750875	0.00003
NM_000251.3(MSH2):c.2131C>T (p.Arg711Ter)	rs63750636	0.00001
NM_000251.2(MSH2):c.-125_1076+?del
NM_000251.3(MSH2):c.1076+1G>A	rs267607940
NM_000251.3(MSH2):c.1147C>T (p.Arg383Ter)	rs63749849
NM_000251.3(MSH2):c.1165C>T (p.Arg389Ter)	rs587779075
NM_000251.3(MSH2):c.1216C>T (p.Arg406Ter)	rs63751108
NM_000251.3(MSH2):c.1662-1G>A	rs267607970
NM_000251.3(MSH2):c.1861C>T (p.Arg621Ter)	rs63750508
NM_000251.3(MSH2):c.2006-5T>A	rs267607990
NM_000251.3(MSH2):c.454del (p.Met152fs)	rs63751449
NM_000251.3(MSH2):c.561_569del (p.Glu188_Leu190del)	rs63750088
NM_000251.3(MSH2):c.641_642insCAAATTGAGTCTAGTGATAA (p.Arg214fs)	rs2104042264
NM_000251.3(MSH2):c.643C>T (p.Gln215Ter)	rs63751274
NM_000251.3(MSH2):c.868G>T (p.Glu290Ter)	rs587779190

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