List of variants in gene PMS2 reported as likely benign by Counsyl

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 19

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HGVS	dbSNP	gnomAD frequency
NM_000535.7(PMS2):c.23+10G>C	rs192027828	0.00182
NM_000535.7(PMS2):c.383C>T (p.Ser128Leu)	rs116373169	0.00177
NM_000535.7(PMS2):c.353+9A>C	rs139990791	0.00099
NM_000535.7(PMS2):c.2187C>G (p.Leu729=)	rs373630535	0.00077
NM_000535.7(PMS2):c.255G>A (p.Leu85=)	rs200491279	0.00013
NM_000535.7(PMS2):c.2276-10A>G	rs573900018	0.00010
NM_000535.7(PMS2):c.384G>A (p.Ser128=)	rs371342884	0.00007
NM_000535.7(PMS2):c.477G>A (p.Val159=)	rs147701251	0.00006
NM_000535.7(PMS2):c.803+23A>T	rs370719706	0.00006
NM_000535.7(PMS2):c.738C>G (p.Pro246=)	rs202094399	0.00005
NM_000535.7(PMS2):c.354-7C>T	rs758471869	0.00001
NM_000535.7(PMS2):c.705+13G>A	rs776790763	0.00001
NM_000535.7(PMS2):c.1344A>G (p.Gly448=)	rs759192470
NM_000535.7(PMS2):c.1688G>T (p.Arg563Leu)	rs63750668
NM_000535.7(PMS2):c.2175-11G>T	rs538914402
NM_000535.7(PMS2):c.23+6C>T	rs779104357
NM_000535.7(PMS2):c.789G>A (p.Leu263=)	rs755394319
NM_000535.7(PMS2):c.804-12A>G	rs1221537446
NM_000535.7(PMS2):c.903+20_903+21del	rs746861817

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