ClinVar Miner

List of variants studied for Platelet-type bleeding disorder 15 by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001130004.2(ACTN1):c.631_651del (p.Val211_Asp217del) rs2503744384
NM_001130004.2(ACTN1):c.655C>A (p.Pro219Thr)
NM_001130004.2(ACTN1):c.959G>A (p.Arg320Gln) rs1566606055

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