List of variants studied for DNA repair disease by Biochemical Molecular Genetic Laboratory, King Abdulaziz Medical City

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Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_001983.4(ERCC1):c.796G>A (p.Ala266Thr)	rs3212977	0.00150
NM_000059.4(BRCA2):c.5312G>A (p.Gly1771Asp)	rs80358755	0.00021
NM_000059.4(BRCA2):c.2830A>T (p.Lys944Ter)	rs80358533	0.00001
NM_000059.4(BRCA2):c.4787del (p.Asn1596fs)	rs1593903422
NM_000059.4(BRCA2):c.7007G>A (p.Arg2336His)	rs28897743
NM_000123.4(ERCC5):c.2427del (p.Asp809fs)	rs777455688
NM_000124.4(ERCC6):c.2551T>C (p.Trp851Arg)	rs368728467
NM_000535.7(PMS2):c.1145-31_1145-13del	rs751973268
NM_000535.7(PMS2):c.1376C>G (p.Ser459Ter)	rs587780724
NM_000535.7(PMS2):c.861_864del (p.Arg287fs)	rs267608154
NM_004628.5(XPC):c.1872+1G>C	rs1559374923
NM_004629.2(FANCG):c.769C>G (p.Arg257Gly)	rs759314410
NM_005732.4(RAD50):c.452_453dup (p.Asn152Ter)	rs1561635887

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