ClinVar Miner

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

Included ClinVar conditions (22):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_001022.4(RPS19):c.356+14= rs1366610 0.99999
NM_001022.4(RPS19):c.411+12G>A rs61762296 0.00287
NM_001022.3(RPS19):c.-234G>A rs142324259 0.00161
NM_001022.4(RPS19):c.60C>G (p.Ala20=) rs149249194 0.00108
NM_001022.3(RPS19):c.-274T>C rs77406992 0.00036
NM_001022.4(RPS19):c.68A>G (p.Lys23Arg) rs143477104 0.00029
NM_001022.4(RPS19):c.1-13C>T rs200634600 0.00028
NM_001022.3(RPS19):c.-288A>C rs192556926 0.00024
NM_001022.4(RPS19):c.173-19C>G rs782495262 0.00006
NM_001022.4(RPS19):c.72-17C>G rs150151184 0.00004
NM_001022.4(RPS19):c.411+6G>C rs138397598 0.00003
NM_001022.3(RPS19):c.-146_-145insGCCA rs34020014
NM_001022.4(RPS19):c.-1+26G>T rs74449035
NM_001022.4(RPS19):c.356+14delinsGG
NM_001022.4(RPS19):c.356+169CT[2] rs369353222
NM_001022.4(RPS19):c.356+18G>C rs61762294
NM_001022.4(RPS19):c.71+12del rs886054470

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