ClinVar Miner

List of variants studied for DNA repair disease by Molecular Genetics, Royal Melbourne Hospital

Included ClinVar conditions (126):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_004629.2(FANCG):c.1538G>A (p.Arg513Gln) rs17885240 0.00863
NM_000400.4(ERCC2):c.2150C>G (p.Ala717Gly) rs144564120 0.00029
NM_000124.4(ERCC6):c.2167C>T (p.Gln723Ter) rs151242354 0.00009
NM_006502.3(POLH):c.1066C>T (p.Arg356Ter) rs559497462 0.00003
NM_000400.4(ERCC2):c.139G>A (p.Gly47Arg) rs1360631927 0.00001
NM_000400.4(ERCC2):c.2066A>T (p.Lys689Met)

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