ClinVar Miner

List of variants studied for Fanconi anemia by Baylor Miraca Genetics Laboratories,

Included ClinVar conditions (38):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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NM_004629.1(FANCG):c.637_643del (p.Tyr213fs) rs587776640
NM_032444.4(SLX4):c.2975G>A (p.Gly992Glu) rs139287784
NM_032444.4(SLX4):c.3136C>T (p.Arg1046Cys)
NM_058216.3(RAD51C):c.571+5G>A rs145779113
NM_058216.3(RAD51C):c.935G>A (p.Arg312Gln) rs779834376

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