ClinVar Miner

List of variants studied for Platelet-type bleeding disorder 15 by Fulgent Genetics, Fulgent Genetics

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001130004.2(ACTN1):c.1211C>G (p.Ser404Cys) rs764176256 0.00001
NM_001130004.2(ACTN1):c.1018A>G (p.Thr340Ala) rs2140158660
NM_001130004.2(ACTN1):c.1501G>A (p.Glu501Lys)

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