ClinVar Miner

List of variants in gene CD36 reported as likely pathogenic for blood platelet disease

Included ClinVar conditions (105):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_001001548.3(CD36):c.429+2T>C rs3211893 0.00220
NM_001001548.3(CD36):c.1150del (p.Ala384fs) rs551607784 0.00157
NM_001001548.3(CD36):c.1156C>T (p.Arg386Trp) rs148910227 0.00072
NM_001001548.3(CD36):c.1144C>T (p.Gln382Ter) rs201657731 0.00013
NM_001001548.3(CD36):c.430-2A>G rs3211901 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.1142T>G (p.Leu381Ter) rs775478465 0.00001
NM_001001548.3(CD36):c.610-2A>G rs745604189 0.00001
NC_000007.14:g.80649748_80727446del
NM_001001548.3(CD36):c.1181_1185dup (p.Glu397fs) rs757570230
NM_001001548.3(CD36):c.1228_1239del (p.Ile410_Ile413del) rs550565800
NM_001001548.3(CD36):c.1240_1243dup (p.Trp415fs) rs757142781
NM_001001548.3(CD36):c.1416_*1del (p.Lys472fs) rs771061715
NM_001001548.3(CD36):c.161G>A (p.Trp54Ter)
NM_001001548.3(CD36):c.186C>G (p.Tyr62Ter)
NM_001001548.3(CD36):c.447_450dup (p.Asn151fs) rs780114238
NM_001001548.3(CD36):c.511del (p.Gln171fs)
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.787_808del (p.Val263fs) rs754365623
NM_001001548.3(CD36):c.949dup (p.Ile317fs) rs70961716
NM_001001548.3(CD36):c.971C>G (p.Ser324Ter) rs751804837

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