ClinVar Miner

List of variants reported as pathogenic for Thrombocytopenia by NIHR Bioresource Rare Diseases, University of Cambridge

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_005373.3(MPL):c.305G>C (p.Arg102Pro) rs28928907 0.00035
NM_014915.3(ANKRD26):c.-126T>C rs1589393792 0.00001
NC_000021.8:g.36284364_37074805del
NC_000021.8:g.36323351_37470324del
NC_000021.9:g.34791392_34804065del
NM_000377.3(WAS):c.134C>T (p.Thr45Met) rs132630273
NM_000407.5(GP1BB):c.143C>A (p.Ser48Ter) rs536874549
NM_000419.5(ITGA2B):c.3076C>T (p.Arg1026Trp) rs766503255
NM_001130004.2(ACTN1):c.136C>T (p.Arg46Trp) rs747559032
NM_014915.3(ANKRD26):c.-127A>G rs1589393799
NM_014915.3(ANKRD26):c.-128G>A rs1589393809

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