List of variants in gene PMS2 reported as likely 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: 11

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HGVS	dbSNP	gnomAD frequency
NM_000535.7(PMS2):c.2521del (p.Trp841fs)	rs886039646	0.00003
NM_000535.7(PMS2):c.825A>G (p.Gln275=)	rs876659736	0.00001
NM_000535.7(PMS2):c.1376C>G (p.Ser459Ter)	rs587780724
NM_000535.7(PMS2):c.1778del (p.Lys593fs)	rs766389591
NM_000535.7(PMS2):c.1912del (p.Gln638fs)	rs1562626070
NM_000535.7(PMS2):c.537+1G>A	rs863224450
NM_000535.7(PMS2):c.537+1del	rs1064793868
NM_000535.7(PMS2):c.538-2A>C	rs758304323
NM_000535.7(PMS2):c.613C>T (p.Gln205Ter)	rs758250810
NM_000535.7(PMS2):c.904-2A>G	rs587781339
NM_000535.7(PMS2):c.989-2A>G	rs587779347

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