ClinVar Miner

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

Included ClinVar conditions (124):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_000124.4(ERCC6):c.3862C>T (p.Arg1288Ter) rs185142838 0.00025
NM_015046.7(SETX):c.1504C>T (p.Arg502Trp) rs534723946 0.00010
NM_001983.4(ERCC1):c.799T>C (p.Ser267Pro) rs146256515 0.00009
NM_000135.4(FANCA):c.3536C>G (p.Pro1179Arg) rs141422170 0.00005
NM_207118.3(GTF2H5):c.36-2A>G rs765378190 0.00001
NM_000124.4(ERCC6):c.1004del (p.Leu335fs) rs1554793305
NM_000124.4(ERCC6):c.1681T>G (p.Tyr561Asp) rs1564430115
NM_000124.4(ERCC6):c.2551T>A (p.Trp851Arg) rs368728467
NM_000135.4(FANCA):c.4056dup (p.Phe1353fs) rs1567593047
NM_000136.3(FANCC):c.346-1G>A rs1484503633
NM_000400.4(ERCC2):c.1887G>C (p.Gln629His) rs200665173
NM_001195248.2(APTX):c.484-1G>T rs1563963464
NM_004629.2(FANCG):c.84+53G>T rs1563987651
NM_015046.7(SETX):c.5024del (p.Pro1675fs) rs1554820021

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