ClinVar Miner

List of variants reported as likely pathogenic for Platelet-type bleeding disorder 10 by Revvity Omics, Revvity

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_001001548.3(CD36):c.1144C>T (p.Gln382Ter) rs201657731 0.00013
NM_001001548.3(CD36):c.268C>T (p.Pro90Ser) rs75326924 0.00011
NM_001001548.3(CD36):c.1254+1G>A rs148051111 0.00004
NM_001001548.3(CD36):c.220C>T (p.Gln74Ter) rs545489204 0.00002
NM_001001548.3(CD36):c.610-2A>G rs745604189 0.00001
NM_001001548.3(CD36):c.1181_1185dup (p.Glu397fs) rs757570230
NM_001001548.3(CD36):c.1240_1243dup (p.Trp415fs) rs757142781
NM_001001548.3(CD36):c.186C>G (p.Tyr62Ter)
NM_001001548.3(CD36):c.447_450dup (p.Asn151fs) rs780114238
NM_001001548.3(CD36):c.660_664del (p.Asn220fs) rs768699378
NM_001001548.3(CD36):c.660_669del (p.Asn220fs) rs778808650
NM_001001548.3(CD36):c.949dup (p.Ile317fs) rs70961716

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