List of variants studied for Lynch syndrome 4 by Institute of Human Genetics, University of Leipzig Medical Center

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_000535.7(PMS2):c.632G>A (p.Arg211Gln)	rs587781934	0.00006
NM_000535.7(PMS2):c.1A>G (p.Met1Val)	rs587779333	0.00004
NM_000535.7(PMS2):c.2288A>G (p.Glu763Gly)	rs587780052	0.00003
NM_000535.7(PMS2):c.809C>G (p.Ser270Ter)	rs786201047	0.00001
NM_000535.7(PMS2):c.1112A>T (p.Asn371Ile)	rs1783517960
NM_000535.7(PMS2):c.1688G>T (p.Arg563Leu)	rs63750668
NM_000535.7(PMS2):c.1939A>T (p.Lys647Ter)	rs201451115
NM_000535.7(PMS2):c.2T>A (p.Met1Lys)	rs587780059
NM_000535.7(PMS2):c.697C>T (p.Gln233Ter)	rs587779343
NM_000535.7(PMS2):c.774_776del (p.Cys259del)
NM_000535.7(PMS2):c.774_780delinsTACG (p.Cys259_Ser260delinsThr)	rs1554301436
NM_000535.7(PMS2):c.778_780delinsACG (p.Ser260Thr)
NM_000535.7:c.(1144+1_1145-1)_(2174+1_2175-1)dup

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