List of variants in gene PMS2 reported as uncertain significance by GeneKor MSA

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.2149G>A (p.Val717Met)	rs201671325	0.00072
NM_000535.7(PMS2):c.1567T>A (p.Ser523Thr)	rs63751132	0.00021
NM_000535.7(PMS2):c.2012C>T (p.Thr671Met)	rs587780046	0.00017
NM_000535.7(PMS2):c.2108C>T (p.Thr703Met)	rs370196722	0.00016
NM_000535.7(PMS2):c.620G>A (p.Gly207Glu)	rs374704824	0.00013
NM_000535.7(PMS2):c.1490G>A (p.Gly497Asp)	rs199739859	0.00008
NM_000535.7(PMS2):c.1717A>T (p.Thr573Ser)	rs63751211	0.00007
NM_000535.7(PMS2):c.2356C>A (p.Leu786Met)	rs576055272	0.00004
NM_000535.7(PMS2):c.1999G>A (p.Glu667Lys)	rs587780045	0.00003
NM_000535.7(PMS2):c.852A>G (p.Ser284=)	rs766177007	0.00002
NM_000535.7(PMS2):c.2332T>A (p.Phe778Ile)	rs876660374	0.00001
NM_000535.7(PMS2):c.46A>G (p.Lys16Glu)	rs777845808	0.00001
NM_000535.7(PMS2):c.803+4A>G	rs756312205	0.00001
NM_000535.7(PMS2):c.1171G>T (p.Asp391Tyr)	rs1064795020
NM_000535.7(PMS2):c.2043G>T (p.Gln681His)	rs876658953
NM_000535.7(PMS2):c.2104G>A (p.Ala702Thr)	rs1554295821
NM_000535.7(PMS2):c.428T>C (p.Ile143Thr)	rs1562690040
NM_000535.7(PMS2):c.542A>T (p.Tyr181Phe)	rs863224681
NM_000535.7(PMS2):c.934A>T (p.Met312Leu)	rs786202567

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