ClinVar Miner

List of variants studied for DNA repair disease by Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center

Included ClinVar conditions (97):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP
NM_001113378.1(FANCI):c.158-2A>G rs762128147
NM_001983.4(ERCC1):c.184G>T (p.Glu62Ter) rs150584960
NM_005732.4(RAD50):c.3806_3807del (p.His1269fs) rs1085307088
NM_006502.2(POLH):c.1603A>G (p.Lys535Glu) rs56307355
NM_006502.2(POLH):c.490G>T (p.Glu164Ter) rs767433001

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