ClinVar Miner

List of variants in gene combination LOC126805851, RBM8A reported as likely benign for hematologic disorder

Included ClinVar conditions (819):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_005105.5(RBM8A):c.205+17C>A rs115417561 0.00191
NM_005105.5(RBM8A):c.342+19T>C rs200836721 0.00018
NM_005105.5(RBM8A):c.265A>G (p.Ile89Val) rs201156815 0.00007
NM_005105.5(RBM8A):c.206-14C>G
NM_005105.5(RBM8A):c.206-18C>G
NM_005105.5(RBM8A):c.255C>T (p.Thr85=)
NM_005105.5(RBM8A):c.279C>T (p.Phe93=)
NM_005105.5(RBM8A):c.342+8_342+11del

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