List of variants studied for DNA repair disease by Genetics and Molecular Pathology, SA Pathology

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Total variants: 9

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HGVS	dbSNP	gnomAD frequency
NM_000400.4(ERCC2):c.1381C>G (p.Leu461Val)	rs121913016	0.00030
NM_000400.4(ERCC2):c.2150C>G (p.Ala717Gly)	rs144564120	0.00029
NM_032444.4(SLX4):c.4739+7G>A	rs748897456	0.00002
NM_000135.4(FANCA):c.709+5G>A	rs759877008	0.00001
NM_001018115.3(FANCD2):c.757C>T (p.Arg253Ter)	rs374328858	0.00001
NM_024675.4(PALB2):c.3350+11A>G	rs515726114	0.00001
NM_000059.4(BRCA2):c.5938A>C (p.Thr1980Pro)	rs55877890
NM_000179.3(MSH6):c.2150_2153del (p.Val717fs)	rs267608058
NM_004629.2(FANCG):c.1003G>A (p.Ala335Thr)

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