ClinVar Miner

List of variants in gene combination LIX1L, LOC126805851, RBM8A reported as likely benign for Radial aplasia-thrombocytopenia syndrome

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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_005105.5(RBM8A):c.68-6T>C rs112273321 0.00607
NM_005105.5(RBM8A):c.128-9C>T rs185927426 0.00007
NM_005105.5(RBM8A):c.127+19G>A
NM_005105.5(RBM8A):c.128-17G>C
NM_005105.5(RBM8A):c.128-7C>T rs190827695
NM_005105.5(RBM8A):c.138C>T (p.Ser46=)
NM_005105.5(RBM8A):c.177G>A (p.Gln59=)
NM_005105.5(RBM8A):c.45C>T (p.Phe15=)
NM_005105.5(RBM8A):c.67+11T>C
NM_005105.5(RBM8A):c.67+13G>A
NM_005105.5(RBM8A):c.67+17C>T
NM_005105.5(RBM8A):c.68-15C>T
NM_005105.5(RBM8A):c.68-18T>C
NM_005105.5(RBM8A):c.68-4C>T rs782317229
NM_005105.5(RBM8A):c.6G>C (p.Ala2=)

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