ClinVar Miner

List of variants in gene FANCA reported as likely pathogenic by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_000135.4(FANCA):c.1734_1739del (p.Tyr578_Val580delinsTer) rs757504102 0.00001
NM_000135.4(FANCA):c.1776+1G>A rs756140957 0.00001
NM_000135.4(FANCA):c.1489C>T (p.Pro497Ser) rs1057521855
NM_000135.4(FANCA):c.2014+1G>C rs1598116164
NM_000135.4(FANCA):c.709+1G>C rs753211631

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