ClinVar Miner

List of variants in gene RPS19 reported as uncertain significance for Diamond-Blackfan anemia

Included ClinVar conditions (19):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 14
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HGVS dbSNP
NC_000019.9:g.(?_42363988)_(42364359_?)del
NM_001022.3(RPS19):c.-139C>T rs886054467
NM_001022.3(RPS19):c.-151G>T rs886054466
NM_001022.3(RPS19):c.-339T>C rs886054465
NM_001022.3(RPS19):c.-74C>T rs886054468
NM_001022.4(RPS19):c.-1+14C>T rs886054469
NM_001022.4(RPS19):c.-10A>G rs564634801
NM_001022.4(RPS19):c.1-9C>A rs376460080
NM_001022.4(RPS19):c.164C>T (p.Thr55Met) rs147508369
NM_001022.4(RPS19):c.172+5G>C rs886054471
NM_001022.4(RPS19):c.175_176delinsCT (p.Ser59Leu)
NM_001022.4(RPS19):c.410A>G (p.Gln137Arg)
NM_001022.4(RPS19):c.68A>G (p.Lys23Arg) rs143477104
NM_001022.4(RPS19):c.71+12del rs886054470

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