List of variants in gene PMS2 reported as uncertain significance for Lynch syndrome 1

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_000535.7(PMS2):c.2182A>G (p.Thr728Ala)	rs141893001	0.00203
NM_000535.7(PMS2):c.383C>T (p.Ser128Leu)	rs116373169	0.00177
NM_000535.7(PMS2):c.2012C>T (p.Thr671Met)	rs587780046	0.00017
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.916G>A (p.Val306Met)	rs587780063	0.00004
NM_000535.7(PMS2):c.2113G>A (p.Glu705Lys)	rs267608161	0.00003
NM_000535.7(PMS2):c.1918G>A (p.Glu640Lys)	rs886062400	0.00001
NM_000535.7(PMS2):c.452G>A (p.Arg151His)	rs35629870	0.00001
NM_000535.7(PMS2):c.962T>C (p.Val321Ala)	rs186448384	0.00001
NM_000535.7(PMS2):c.706-4dup	rs60794673
NM_000535.7(PMS2):c.989-107_989-106insA

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