ClinVar Miner

List of variants in gene combination FANCA, ZNF276 reported as pathogenic by Counsyl

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Gene type:
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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_000135.4(FANCA):c.3813dup (p.His1272fs) rs1555534521 0.00001
NM_000135.4(FANCA):c.4069_4082del (p.Ala1357fs) rs747892390 0.00001
NM_000135.4(FANCA):c.4124_4125del (p.Thr1375fs) rs776969626
NM_000135.4(FANCA):c.4261-2A>C rs915983602

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