ClinVar Miner

List of variants reported as likely pathogenic for DNA repair disease by Genetic Services Laboratory, University of Chicago

Included ClinVar conditions (95):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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NM_000135.2(FANCA):c.3624C>T (p.Ser1208=) rs149797103
NM_000135.2(FANCA):c.826+5_826+9del rs797045570
NM_000135.3(FANCA):c.3482C>T (p.Thr1161Met) rs142833057
NM_005236.2(ERCC4):c.1765C>T (p.Arg589Trp) rs147105770
NM_015046.5(SETX):c.6038T>G (p.Val2013Gly) rs797045068

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