List of variants in gene PMS2 reported by Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden

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: 27

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HGVS	dbSNP	gnomAD frequency
NM_000535.7(PMS2):c.23+10G>C	rs192027828	0.00182
NM_000535.7(PMS2):c.86G>C (p.Gly29Ala)	rs146176004	0.00059
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile)	rs121434629	0.00018
NM_000535.7(PMS2):c.2012C>T (p.Thr671Met)	rs587780046	0.00017
NM_000535.7(PMS2):c.1556A>G (p.Tyr519Cys)	rs63750649	0.00013
NM_000535.7(PMS2):c.1559C>T (p.Ala520Val)	rs63751300	0.00011
NM_000535.7(PMS2):c.1490G>A (p.Gly497Asp)	rs199739859	0.00008
NM_000535.7(PMS2):c.961G>A (p.Val321Ile)	rs377043696	0.00004
NM_000535.7(PMS2):c.2113G>A (p.Glu705Lys)	rs267608161	0.00003
NM_000535.7(PMS2):c.2288A>G (p.Glu763Gly)	rs587780052	0.00003
NM_000535.7(PMS2):c.1981G>A (p.Glu661Lys)	rs778531080	0.00002
NM_000535.7(PMS2):c.2240G>C (p.Arg747Thr)	rs587782671	0.00002
NM_000535.7(PMS2):c.2264T>C (p.Ile755Thr)	rs386833410	0.00002
NM_000535.7(PMS2):c.1363T>C (p.Ser455Pro)	rs1554297839	0.00001
NM_000535.7(PMS2):c.1705A>G (p.Thr569Ala)	rs762151417	0.00001
NM_000535.7(PMS2):c.1753C>A (p.Leu585Ile)	rs63750947	0.00001
NM_000535.7(PMS2):c.2438G>T (p.Arg813Leu)	rs587782665	0.00001
NM_000535.7(PMS2):c.502G>A (p.Val168Met)	rs762645507	0.00001
NM_000535.7(PMS2):c.913C>G (p.Leu305Val)	rs750420143	0.00001
NM_000535.7(PMS2):c.1072T>A (p.Ser358Thr)	rs767755376
NM_000535.7(PMS2):c.1358T>C (p.Met453Thr)	rs1060503130
NM_000535.7(PMS2):c.1688G>T (p.Arg563Leu)	rs63750668
NM_000535.7(PMS2):c.2153T>C (p.Leu718Pro)	rs755117943
NM_000535.7(PMS2):c.215G>C (p.Gly72Ala)	rs730881915
NM_000535.7(PMS2):c.2266G>A (p.Asp756Asn)	rs762206330
NM_000535.7(PMS2):c.376C>G (p.His126Asp)	rs774135207
NM_000535.7(PMS2):c.706-5_706-4del	rs60794673

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