ClinVar Miner

List of variants studied for Fanconi anemia complementation group C by GenomeConnect - Invitae Patient Insights Network

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_000136.3(FANCC):c.572T>C (p.Ile191Thr) rs767302089 0.00001
NM_000136.3(FANCC):c.76T>A (p.Ser26Thr) rs1165230596 0.00001
NM_000136.3(FANCC):c.455dup (p.Asn152fs) rs774170058

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