ClinVar Miner

List of variants in gene MRPS22 studied for not provided

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Gene type:
ClinVar version:
Total variants: 132
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HGVS dbSNP gnomAD frequency
NM_020191.4(MRPS22):c.732+210A>G rs6788313 0.88988
NM_020191.4(MRPS22):c.649-250T>C rs6776315 0.73940
NM_020191.4(MRPS22):c.649-295del rs112795230 0.66522
NM_020191.4(MRPS22):c.340-100A>T rs10755092 0.66350
NM_020191.4(MRPS22):c.339+102C>T rs1610195 0.66204
NM_020191.4(MRPS22):c.988-117C>A rs9878548 0.65715
NM_020191.4(MRPS22):c.*82C>T rs7833 0.37928
NM_020191.4(MRPS22):c.339+175A>G rs2307030 0.11300
NM_020191.4(MRPS22):c.987+205T>G rs9846449 0.08985
NM_020191.4(MRPS22):c.504+217A>G rs17394620 0.07571
NM_020191.4(MRPS22):c.879-330T>A rs2291555 0.07567
NC_000003.12:g.139357161C>T rs80049554 0.07558
NM_020191.4(MRPS22):c.649-126C>A rs17316181 0.07557
NM_020191.4(MRPS22):c.*93A>G rs74365525 0.07556
NM_020191.4(MRPS22):c.733-262C>G rs59958973 0.07549
NM_020191.4(MRPS22):c.173-291G>A rs59960641 0.07548
NM_020191.4(MRPS22):c.988-33A>G rs78116750 0.07545
NM_020191.4(MRPS22):c.649-249G>A rs9874956 0.03158
NM_020191.4(MRPS22):c.283A>C (p.Ile95Leu) rs73866065 0.01879
NM_020191.4(MRPS22):c.987+167T>C rs183604301 0.01736
NM_020191.4(MRPS22):c.879-238T>C rs114351042 0.01614
NM_020191.4(MRPS22):c.988-113T>A rs146849789 0.00930
NM_020191.4(MRPS22):c.201A>G (p.Lys67=) rs11556243 0.00739
NM_020191.4(MRPS22):c.340-72T>C rs116349764 0.00484
NM_020191.4(MRPS22):c.741C>G (p.His247Gln) rs140631494 0.00357
NM_020191.4(MRPS22):c.339+290C>T rs7643153 0.00352
NM_020191.4(MRPS22):c.505-41G>A rs149021264 0.00230
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.27G>C (p.Leu9Phe) rs148997212 0.00049
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.767G>A (p.Arg256His) rs149674843 0.00012
NM_020191.4(MRPS22):c.652A>G (p.Met218Val) rs201627731 0.00011
NM_020191.4(MRPS22):c.*18A>G rs375619422 0.00010
NM_020191.4(MRPS22):c.340-14T>A rs377459479 0.00010
NM_020191.4(MRPS22):c.173-15_173-14dup rs863224076 0.00009
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.766C>T (p.Arg256Cys) rs367924368 0.00006
NM_020191.4(MRPS22):c.321T>C (p.Thr107=) rs150391961 0.00004
NM_020191.4(MRPS22):c.504+18C>T rs752246508 0.00004
NM_020191.4(MRPS22):c.523A>G (p.Arg175Gly) rs141721636 0.00004
NM_020191.4(MRPS22):c.878+1G>T rs775354826 0.00004
NM_020191.4(MRPS22):c.248C>G (p.Thr83Arg) rs1941049024 0.00003
NM_020191.4(MRPS22):c.503G>A (p.Arg168Gln) rs765657972 0.00003
NM_020191.4(MRPS22):c.572G>A (p.Arg191Gln) rs768880732 0.00003
NM_020191.4(MRPS22):c.666C>T (p.Asp222=) rs760106093 0.00003
NM_020191.4(MRPS22):c.502C>T (p.Arg168Trp) rs544369132 0.00002
NM_020191.4(MRPS22):c.604C>T (p.Arg202Cys) rs537942799 0.00002
NM_020191.4(MRPS22):c.605G>A (p.Arg202His) rs753345594 0.00002
NM_020191.4(MRPS22):c.173-14A>G rs760358192 0.00001
NM_020191.4(MRPS22):c.363A>G (p.Ala121=) rs371203445 0.00001
NM_020191.4(MRPS22):c.445G>A (p.Glu149Lys) rs1054854502 0.00001
NM_020191.4(MRPS22):c.455A>G (p.Glu152Gly) rs1250398879 0.00001
NM_020191.4(MRPS22):c.732G>A (p.Lys244=) rs755022329 0.00001
NM_020191.4(MRPS22):c.883G>A (p.Asp295Asn) rs771393161 0.00001
NM_020191.4(MRPS22):c.987+9T>C rs762988177 0.00001
NM_020191.4(MRPS22):c.1025T>C (p.Ile342Thr) rs11556240
NM_020191.4(MRPS22):c.1032A>C (p.Leu344=)
NM_020191.4(MRPS22):c.10C>T (p.Leu4Phe)
NM_020191.4(MRPS22):c.12C>G (p.Leu4=)
NM_020191.4(MRPS22):c.173-18T>C rs2107787249
NM_020191.4(MRPS22):c.208T>C (p.Phe70Leu)
NM_020191.4(MRPS22):c.213G>T (p.Met71Ile) rs781621580
NM_020191.4(MRPS22):c.21T>C (p.Thr7=)
NM_020191.4(MRPS22):c.222A>G (p.Glu74=)
NM_020191.4(MRPS22):c.232A>C (p.Ile78Leu)
NM_020191.4(MRPS22):c.232A>G (p.Ile78Val) rs200542439
NM_020191.4(MRPS22):c.283A>G (p.Ile95Val)
NM_020191.4(MRPS22):c.302C>T (p.Pro101Leu)
NM_020191.4(MRPS22):c.339+11G>T
NM_020191.4(MRPS22):c.339+4C>T rs372691699
NM_020191.4(MRPS22):c.33G>A (p.Trp11Ter)
NM_020191.4(MRPS22):c.340-18_340-15del
NM_020191.4(MRPS22):c.374G>A (p.Arg125Gln)
NM_020191.4(MRPS22):c.378A>G (p.Leu126=)
NM_020191.4(MRPS22):c.40_41insA (p.Leu14fs)
NM_020191.4(MRPS22):c.42GAG[1] (p.Arg15del) rs988997203
NM_020191.4(MRPS22):c.42_43delinsAG (p.Arg15Gly) rs1560004052
NM_020191.4(MRPS22):c.468T>C (p.Tyr156=)
NM_020191.4(MRPS22):c.493A>G (p.Ile165Val) rs2107788084
NM_020191.4(MRPS22):c.504+19G>A
NM_020191.4(MRPS22):c.504+92C>T rs77869711
NM_020191.4(MRPS22):c.519C>T (p.Val173=)
NM_020191.4(MRPS22):c.520G>A (p.Val174Ile)
NM_020191.4(MRPS22):c.540A>C (p.Thr180=) rs753506675
NM_020191.4(MRPS22):c.544del (p.Arg182fs)
NM_020191.4(MRPS22):c.566G>T (p.Arg189Leu)
NM_020191.4(MRPS22):c.571C>T (p.Arg191Ter)
NM_020191.4(MRPS22):c.579A>T (p.Ile193=)
NM_020191.4(MRPS22):c.622A>G (p.Ile208Val)
NM_020191.4(MRPS22):c.648+16T>A
NM_020191.4(MRPS22):c.648+19del rs773240427
NM_020191.4(MRPS22):c.649-2A>G
NM_020191.4(MRPS22):c.649-302C>A rs397875589
NM_020191.4(MRPS22):c.649A>T (p.Thr217Ser)
NM_020191.4(MRPS22):c.664G>A (p.Asp222Asn) rs863224078
NM_020191.4(MRPS22):c.684C>T (p.Leu228=) rs776170672
NM_020191.4(MRPS22):c.698C>T (p.Ala233Val)
NM_020191.4(MRPS22):c.712G>C (p.Asp238His)
NM_020191.4(MRPS22):c.732+14A>C
NM_020191.4(MRPS22):c.733-8G>A
NM_020191.4(MRPS22):c.750T>C (p.Tyr250=)
NM_020191.4(MRPS22):c.758T>C (p.Ile253Thr) rs761121831
NM_020191.4(MRPS22):c.760_763del (p.Asp254fs)
NM_020191.4(MRPS22):c.768_769del (p.Gly257fs) rs863224077
NM_020191.4(MRPS22):c.865A>T (p.Ile289Phe) rs772835214
NM_020191.4(MRPS22):c.869A>G (p.Gln290Arg)
NM_020191.4(MRPS22):c.878+12C>G
NM_020191.4(MRPS22):c.878+18_878+21del
NM_020191.4(MRPS22):c.879-15C>A
NM_020191.4(MRPS22):c.879-15C>T
NM_020191.4(MRPS22):c.879-6T>G
NM_020191.4(MRPS22):c.914_919del (p.His305_Val306del)
NM_020191.4(MRPS22):c.915C>T (p.His305=)
NM_020191.4(MRPS22):c.936G>C (p.Gln312His)
NM_020191.4(MRPS22):c.938C>A (p.Ser313Ter) rs147932653
NM_020191.4(MRPS22):c.963T>C (p.Ala321=) rs768350764
NM_020191.4(MRPS22):c.969G>T (p.Glu323Asp)
NM_020191.4(MRPS22):c.987+12T>G
NM_020191.4(MRPS22):c.987+15del rs372892045
NM_020191.4(MRPS22):c.987+15dup rs372892045
NM_020191.4(MRPS22):c.987+173_987+174del rs3830347
NM_020191.4(MRPS22):c.987+3A>G rs2107792041
NM_020191.4(MRPS22):c.988-13T>C rs2107792946
NM_020191.4(MRPS22):c.988-157_988-154del rs57309825
NM_020191.4(MRPS22):c.988-170TG[2] rs370217828
NM_020191.4(MRPS22):c.988-19_988-18del
NM_020191.4(MRPS22):c.988-5_988-2dup

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