ClinVar Miner

List of variants studied for DNA repair disease by GenomeConnect, ClinGen

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_000051.3(ATM):c.7463G>A (p.Cys2488Tyr) rs774281788
NM_000059.3(BRCA2):c.5576_5579del (p.Ile1859fs) rs80359520
NM_000251.2(MSH2):c.2510C>G (p.Pro837Arg)
NM_000400.3(ERCC2):c.1847G>C (p.Arg616Pro) rs376556895
NM_024675.3(PALB2):c.2368C>T (p.Gln790Ter) rs886039480

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