ClinVar Miner

List of variants reported as likely pathogenic for Radial aplasia-thrombocytopenia syndrome

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Total variants: 3
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HGVS dbSNP
GRCh37/hg19 1q21.1(chr1:145395604-145704146)
NM_005105.4(RBM8A):c.-21G>A rs139428292
NM_005105.4(RBM8A):c.67+32G>C rs201779890

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