List of variants in gene PMS2 reported as not provided by ITMI

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: 31

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HGVS	dbSNP	gnomAD frequency
NM_000535.7(PMS2):c.1621A>G (p.Lys541Glu)	rs2228006	0.86482
NM_000535.7(PMS2):c.1408C>T (p.Pro470Ser)	rs1805321	0.37107
NM_000535.7(PMS2):c.59G>A (p.Arg20Gln)	rs10254120	0.07445
NM_000535.7(PMS2):c.1454C>A (p.Thr485Lys)	rs1805323	0.05742
NM_000535.7(PMS2):c.1532C>T (p.Thr511Met)	rs74902811	0.02492
NM_000535.7(PMS2):c.1531A>G (p.Thr511Ala)	rs2228007	0.02174
NM_000535.7(PMS2):c.1866G>A (p.Met622Ile)	rs1805324	0.01651
NM_000535.7(PMS2):c.1789A>T (p.Thr597Ser)	rs1805318	0.01006
NM_000535.7(PMS2):c.52A>G (p.Ile18Val)	rs63750123	0.00861
NM_000535.7(PMS2):c.1711C>A (p.Leu571Ile)	rs63750055	0.00784
NM_000535.7(PMS2):c.2340C>T (p.Pro780=)	rs142230276	0.00117
NM_000535.7(PMS2):c.86G>C (p.Gly29Ala)	rs146176004	0.00059
NM_000535.7(PMS2):c.1708A>G (p.Asn570Asp)	rs115670442	0.00048
NM_000535.7(PMS2):c.1004A>G (p.Asn335Ser)	rs200513014	0.00026
NM_000535.7(PMS2):c.2324A>G (p.Asn775Ser)	rs17420802	0.00025
NM_000535.7(PMS2):c.1567T>A (p.Ser523Thr)	rs63751132	0.00021
NM_000535.7(PMS2):c.857A>G (p.Asp286Gly)	rs116788608	0.00011
NM_000535.7(PMS2):c.379G>A (p.Ala127Thr)	rs114090343	0.00010
NM_000535.7(PMS2):c.1490G>A (p.Gly497Asp)	rs199739859	0.00008
NM_000535.7(PMS2):c.166C>G (p.Leu56Val)	rs371011390	0.00004
NM_000535.7(PMS2):c.598G>A (p.Val200Ile)	rs587778620	0.00002
NM_000535.7(PMS2):c.1261C>T (p.Arg421Ter)	rs587778617	0.00001
NM_000535.7(PMS2):c.653G>A (p.Gly218Asp)	rs368043334	0.00001
NM_000535.7(PMS2):c.1234A>G (p.Lys412Glu)	rs587778616
NM_000535.7(PMS2):c.1267G>A (p.Ala423Thr)	rs587778619
NM_000535.7(PMS2):c.1360_1361delinsTC (p.Leu454Ser)	rs587778615
NM_000535.7(PMS2):c.1437C>G (p.His479Gln)	rs63750685
NM_000535.7(PMS2):c.1687C>T (p.Arg563Ter)	rs587778618
NM_000535.7(PMS2):c.1688G>T (p.Arg563Leu)	rs63750668
NM_000535.7(PMS2):c.1831dup (p.Ile611fs)	rs63750250
NM_000535.7(PMS2):c.817A>G (p.Ile273Val)	rs587778621

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