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

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_005105.5(RBM8A):c.*6C>G	rs12079762	0.04454
NM_005105.5(RBM8A):c.-21G>A	rs139428292	0.01871
NC_000001.11:g.145919695T>C	rs61746197	0.00503
GRCh37/hg19 1q21.1(chr1:145395604-145704146)
NC_000001.11:g.145601946_148597425del
NM_005105.5(RBM8A):c.336_342+2del	rs1648166006

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