ClinVar Miner

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

Included ClinVar conditions (97):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP
NM_000051.3(ATM):c.2921+1G>T rs587781558
NM_000051.3(ATM):c.467G>A (p.Trp156Ter) rs876658159
NM_000123.3(ERCC5):c.348_352del (p.Arg116fs) rs1242579404
NM_000124.4(ERCC6):c.1004del (p.Leu335fs) rs1554793305
NM_000124.4(ERCC6):c.2551T>A (p.Trp851Arg) rs368728467
NM_000124.4(ERCC6):c.3862C>T (p.Arg1288Ter) rs185142838
NM_001195248.2(APTX):c.484-1G>T rs1563963464

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