List of variants in gene PMS1 studied for PMS1-related disorder

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 5

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HGVS	dbSNP	gnomAD frequency
NM_000534.5(PMS1):c.175G>A (p.Glu59Lys)	rs143265397	0.00259
NM_000534.5(PMS1):c.174G>T (p.Gly58=)	rs143323454	0.00258
NM_000534.5(PMS1):c.418+78G>A	rs550407834	0.00055
NM_000534.5(PMS1):c.2755C>T (p.Arg919Cys)	rs145103030	0.00020
NM_000534.5(PMS1):c.418+70del	rs3214425

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