List of variants reported as pathogenic for DNA repair disease by Genomic Research Center, Shahid Beheshti University of Medical Sciences

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_000124.4(ERCC6):c.3862C>T (p.Arg1288Ter)	rs185142838	0.00025
NM_000122.2(ERCC3):c.1273C>T (p.Arg425Ter)	rs121913047
NM_000124.4(ERCC6):c.1004del (p.Leu335fs)	rs1554793305
NM_000124.4(ERCC6):c.2551T>A (p.Trp851Arg)	rs368728467
NM_000136.3(FANCC):c.346-1G>A	rs1484503633
NM_001195248.2(APTX):c.484-1G>T	rs1563963464

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