ClinVar Miner

List of variants reported as pathogenic for Platelet-type bleeding disorder 10

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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_001001548.3(CD36):c.975T>G (p.Tyr325Ter) rs3211938 0.02669
NM_001001548.3(CD36):c.1079T>G (p.Leu360Ter) rs56381858 0.00017
NM_001001548.3(CD36):c.268C>T (p.Pro90Ser) rs75326924 0.00011
CD36, G1439C, 1-BP DEL, 1444A
NM_001001547.2(CD36):c.120+399TG[12]
NM_001001547.2:c.(?_-183)_(120_?)del
NM_001001548.3(CD36):c.1228_1239del (p.Ile410_Ile413del) rs550565800
NM_001001548.3(CD36):c.1237A>C (p.Ile413Leu) rs121918035
NM_001001548.3(CD36):c.1240_1243dup (p.Trp415fs) rs757142781
NM_001001548.3(CD36):c.332_333del (p.Thr111fs) rs572295823
NM_001001548.3(CD36):c.447_450dup (p.Asn151fs) rs780114238
NM_001001548.3(CD36):c.638_639del (p.Lys213fs) rs780525946
NM_001001548.3(CD36):c.667_671dup (p.Ala225fs) rs748431584
NM_001001548.3(CD36):c.729C>A (p.Cys243Ter) rs149985988
NM_001001548.3(CD36):c.760T>C (p.Phe254Leu) rs142186404
NM_001001548.3(CD36):c.787_808del (p.Val263fs) rs754365623
NM_001001548.3(CD36):c.949dup (p.Ile317fs) rs70961716

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