ClinVar Miner

List of variants in gene MRPS22 studied for combined oxidative phosphorylation deficiency

Included ClinVar conditions (81):
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Gene type:
ClinVar version:
Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_020191.4(MRPS22):c.283A>C (p.Ile95Leu) rs73866065 0.01879
NM_020191.4(MRPS22):c.201A>G (p.Lys67=) rs11556243 0.00739
NM_020191.4(MRPS22):c.741C>G (p.His247Gln) rs140631494 0.00357
NM_020191.4(MRPS22):c.617C>T (p.Thr206Ile) rs76148008 0.00160
NM_020191.4(MRPS22):c.327A>G (p.Ala109=) rs138148950 0.00071
NM_020191.4(MRPS22):c.938C>T (p.Ser313Leu) rs147932653 0.00066
NM_020191.4(MRPS22):c.787C>T (p.Arg263Cys) rs147739245 0.00027
NM_020191.4(MRPS22):c.6G>A (p.Ala2=) rs144902770 0.00018
NM_020191.4(MRPS22):c.509G>A (p.Arg170His) rs119478059 0.00012
NM_020191.4(MRPS22):c.652A>G (p.Met218Val) rs201627731 0.00011
NM_020191.4(MRPS22):c.340-14T>A rs377459479 0.00010
NM_020191.4(MRPS22):c.799T>C (p.Tyr267His) rs762299963 0.00008
NM_020191.4(MRPS22):c.1032_1035dup (p.Leu346fs) rs772578397 0.00007
NM_020191.4(MRPS22):c.502C>T (p.Arg168Trp) rs544369132 0.00002
NM_020191.4(MRPS22):c.508C>T (p.Arg170Cys) rs948280864 0.00001
NM_020191.4(MRPS22):c.732G>A (p.Lys244=) rs755022329 0.00001
NM_020191.4(MRPS22):c.1045T>A (p.Tyr349Asn) rs886058024
NM_020191.4(MRPS22):c.318G>A (p.Met106Ile) rs973338617
NM_020191.4(MRPS22):c.433G>T (p.Asp145Tyr)
NM_020191.4(MRPS22):c.481dup (p.Ile161fs)
NM_020191.4(MRPS22):c.600A>C (p.Glu200Asp) rs1941120713
NM_020191.4(MRPS22):c.644T>C (p.Leu215Pro) rs387906924
NM_020191.4(MRPS22):c.648+19del rs773240427
NM_020191.4(MRPS22):c.648+1G>T
NM_020191.4(MRPS22):c.758T>C (p.Ile253Thr) rs761121831
NM_020191.4(MRPS22):c.874_875del (p.Asp292fs) rs775852045
NM_020191.4(MRPS22):c.878+13T>C rs1941178559
NM_020191.4(MRPS22):c.943C>T (p.Gln315Ter)
NM_020191.4(MRPS22):c.987+15del rs372892045
NM_020191.4(MRPS22):c.992_993del (p.Phe331fs)

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