List of variants reported as pathogenic for blood platelet disease by Mendelics

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Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_005105.5(RBM8A):c.-21G>A	rs139428292	0.01871
NM_005105.5(RBM8A):c.67+32G>C	rs201779890	0.00518
NM_030773.4(TUBB1):c.326G>A (p.Gly109Glu)	rs41303899	0.00092
NM_022788.5(P2RY12):c.794G>C (p.Arg265Pro)	rs755459581	0.00001
NM_000173.7(GP1BA):c.1274_1275del (p.Glu425fs)	rs773663190
NM_002473.6(MYH9):c.2104C>T (p.Arg702Cys)	rs80338826
NM_002473.6(MYH9):c.2507C>T (p.Pro836Leu)	rs1603483077
NM_005105.5(RBM8A):c.-19G>A	rs760383043
NM_005105.5(RBM8A):c.67+34G>C	rs1553756157
NM_139027.6(ADAMTS13):c.2863dup (p.Trp955fs)	rs1588198044

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