ClinVar Miner

List of variants reported as pathogenic for Bleeding disorder, platelet-type, 25

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Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_003290.3(TPM4):c.205C>T (p.Arg69Ter)	rs2090489083	0.00001
NM_003290.3(TPM4):c.436C>T (p.Arg146Cys)	rs752488156	0.00001
NM_003290.3(TPM4):c.322C>T (p.Gln108Ter)	rs2512689549

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