ClinVar Miner

List of variants reported as likely benign for Hereditary sensory and autonomic neuropathy type 6; Epidermolysis bullosa simplex 3, localized or generalized intermediate, with BP230 deficiency by Fulgent Genetics, Fulgent Genetics

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Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001374736.1(DST):c.15584G>A (p.Cys5195Tyr) rs57472891 0.01957
NM_001374736.1(DST):c.17923-10A>G rs116504133 0.01889
NM_001374736.1(DST):c.3495-17T>C rs74865335 0.01174
NM_001374736.1(DST):c.14461A>C (p.Asn4821His) rs139089184 0.00260

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