List of variants studied for DNA repair disease by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_002693.3(POLG):c.3708G>T (p.Gln1236His)	rs3087374	0.06272
NM_018319.4(TDP1):c.302C>T (p.Pro101Leu)	rs35455108	0.00620
NM_001195248.2(APTX):c.457A>G (p.Lys153Glu)	rs34634937	0.00350
NM_032043.3(BRIP1):c.584T>C (p.Leu195Pro)	rs4988347	0.00197
NM_001195248.2(APTX):c.742T>A (p.Leu248Met)	rs141195622	0.00183
NM_018319.4(TDP1):c.208T>A (p.Ser70Thr)	rs140058160	0.00014
NM_032043.3(BRIP1):c.3099T>C (p.Pro1033=)	rs202228407	0.00013
NM_032043.3(BRIP1):c.1626C>T (p.Ser542=)	rs373709958	0.00004
NM_018319.4(TDP1):c.1799C>T (p.Thr600Met)	rs772139596	0.00003
NM_018319.4(TDP1):c.1793C>T (p.Pro598Leu)	rs113382706	0.00002
NM_032043.3(BRIP1):c.1754C>A (p.Ala585Glu)	rs756946068	0.00001
NM_032043.3(BRIP1):c.1873T>C (p.Ser625Pro)	rs935011040	0.00001
NM_001195248.2(APTX):c.484-25_484-4del	rs778542759
NM_001195248.2(APTX):c.484-25_484-5del	rs200922655
NM_001195248.2(APTX):c.484-25_484-6del	rs771925873
NM_032043.3(BRIP1):c.1331G>C (p.Ser444Thr)	rs1603342140

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