ClinVar Miner

List of variants studied for Platelet-type bleeding disorder 10 by Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_001001548.3(CD36):c.429+2T>C rs3211893 0.00220
NM_001001548.3(CD36):c.1079T>G (p.Leu360Ter) rs56381858 0.00017
NM_001001548.3(CD36):c.107del (p.Lys36fs) rs754478799
NM_001001548.3(CD36):c.1206_1230dup (p.Val411fs)
NM_001001548.3(CD36):c.1240_1243dup (p.Trp415fs) rs757142781
NM_001001548.3(CD36):c.1345_1348del (p.Leu449fs)
NM_001001548.3(CD36):c.588del (p.Thr197fs)
NM_001001548.3(CD36):c.729C>A (p.Cys243Ter) rs149985988

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