ClinVar Miner

List of variants in gene RPS17 reported as pathogenic

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Total variants: 7
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HGVS dbSNP gnomAD frequency
GRCh37/hg19 15q25.2(chr15:82631657-83198302)x1
NG_009890.2:g.(5565_6559)_(8796_9460)del
NM_001021.6(RPS17):c.159T>G (p.Tyr53Ter) rs6991
NM_001021.6(RPS17):c.1A>G (p.Met1Val)
NM_001021.6(RPS17):c.201_202del (p.Gly68fs) rs116840812
NM_001021.6(RPS17):c.2T>G (p.Met1Arg) rs116840811
NM_001021.6(RPS17):c.60del (p.Tyr21fs)

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