ClinVar Miner

List of variants reported as uncertain significance for congenital structural myopathy by Revvity Omics, Revvity

Included ClinVar conditions (176):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 139
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000036.3(AMPD1):c.860A>T (p.Lys287Ile) rs34526199 0.02732
NM_000036.3(AMPD1):c.930G>T (p.Met310Ile) rs61752478 0.00384
NM_000036.3(AMPD1):c.381+1G>C rs143303736 0.00125
NM_000036.3(AMPD1):c.235C>T (p.Arg79Trp) rs61758863 0.00124
NM_000036.3(AMPD1):c.512G>A (p.Gly171Asp) rs142582318 0.00093
NM_198271.5(LMOD3):c.247C>T (p.Arg83Cys) rs200367429 0.00080
NM_000036.3(AMPD1):c.1721G>A (p.Gly574Glu) rs150645738 0.00070
NM_000036.3(AMPD1):c.1986G>A (p.Met662Ile) rs115092288 0.00053
NM_000036.3(AMPD1):c.688A>G (p.Lys230Glu) rs138705920 0.00042
NM_000036.3(AMPD1):c.1274G>A (p.Arg425His) rs121912682 0.00031
NM_000036.3(AMPD1):c.971A>G (p.Gln324Arg) rs150190849 0.00029
NM_000036.3(AMPD1):c.1794A>T (p.Leu598Phe) rs200717164 0.00025
NM_152393.4(KLHL40):c.1681G>A (p.Ala561Thr) rs142487510 0.00019
NM_006790.3(MYOT):c.1364G>A (p.Arg455Gln) rs141801816 0.00017
NM_006790.3(MYOT):c.1413G>T (p.Leu471Phe) rs146426896 0.00015
NM_000036.3(AMPD1):c.785G>A (p.Arg262Gln) rs764094155 0.00014
NM_000036.3(AMPD1):c.637G>A (p.Gly213Ser) rs373262677 0.00013
NM_000036.3(AMPD1):c.2146C>T (p.Arg716Trp) rs143596876 0.00011
NM_152393.4(KLHL40):c.88G>A (p.Gly30Ser) rs140056720 0.00011
NM_000036.3(AMPD1):c.424C>T (p.Arg142Trp) rs369963978 0.00009
NM_001040436.3(YARS2):c.202G>A (p.Gly68Ser) rs150304121 0.00009
NC_000001.11:g.114695547A>G rs377496676 0.00008
NM_000036.3(AMPD1):c.958A>G (p.Lys320Glu) rs376193713 0.00008
NM_000036.3(AMPD1):c.577G>A (p.Asp193Asn) rs376789465 0.00007
NM_000183.3(HADHB):c.584G>A (p.Arg195Gln) rs764507324 0.00007
NM_006790.3(MYOT):c.1203T>A (p.Asp401Glu) rs78633961 0.00006
NM_000036.3(AMPD1):c.1111C>A (p.Arg371Ser) rs143303551 0.00005
NM_001101362.3(KBTBD13):c.290T>C (p.Leu97Pro) rs767384093 0.00005
NM_000036.3(AMPD1):c.1192A>G (p.Ile398Val) rs1263217341 0.00004
NM_000036.3(AMPD1):c.1974+1G>A rs145328844 0.00004
NM_000036.3(AMPD1):c.53G>A (p.Arg18His) rs140601541 0.00004
NM_000036.3(AMPD1):c.784C>T (p.Arg262Trp) rs768332999 0.00004
NM_000036.3(AMPD1):c.787C>T (p.Arg263Cys) rs139003085 0.00004
NM_001101362.3(KBTBD13):c.1184C>T (p.Thr395Met) rs758995387 0.00004
NM_006790.3(MYOT):c.1159G>A (p.Glu387Lys) rs373489115 0.00004
NM_006790.3(MYOT):c.629C>T (p.Ser210Leu) rs756669574 0.00004
NM_018116.4(MSTO1):c.1021A>G (p.Thr341Ala) rs757761857 0.00004
NM_025215.6(PUS1):c.643C>T (p.Arg215Trp) rs776342428 0.00004
NM_198271.5(LMOD3):c.332G>A (p.Arg111His) rs370401036 0.00004
NM_000036.3(AMPD1):c.2147G>A (p.Arg716Gln) rs886045093 0.00003
NM_006790.3(MYOT):c.17G>A (p.Arg6His) rs387906882 0.00003
NM_006790.3(MYOT):c.182A>C (p.His61Pro) rs372276337 0.00003
NM_000036.3(AMPD1):c.2182C>T (p.Arg728Cys) rs777802711 0.00002
NM_000036.3(AMPD1):c.296T>C (p.Ile99Thr) rs765248906 0.00002
NM_000116.5(TAFAZZIN):c.154G>A (p.Glu52Lys) rs794729166 0.00002
NM_006790.3(MYOT):c.529C>G (p.Gln177Glu) rs140135928 0.00002
NM_000036.3(AMPD1):c.1708C>T (p.Arg570Ter) rs377185948 0.00001
NM_000036.3(AMPD1):c.40G>A (p.Asp14Asn) rs866261066 0.00001
NM_000036.3(AMPD1):c.793A>G (p.Lys265Glu) rs886044350 0.00001
NM_000036.3(AMPD1):c.950G>A (p.Arg317His) rs142123340 0.00001
NM_006790.3(MYOT):c.1015G>A (p.Asp339Asn) rs201903235 0.00001
NM_006790.3(MYOT):c.1126C>T (p.Pro376Ser) rs777061001 0.00001
NM_006790.3(MYOT):c.1300T>C (p.Cys434Arg) rs769872126 0.00001
NM_006790.3(MYOT):c.1439A>G (p.Glu480Gly) rs727504026 0.00001
NM_006790.3(MYOT):c.143C>T (p.Thr48Ile) rs770515990 0.00001
NM_006790.3(MYOT):c.232G>A (p.Gly78Ser) rs1755029530 0.00001
NM_006790.3(MYOT):c.372del (p.Ala125fs) rs781353247 0.00001
NM_006790.3(MYOT):c.392C>A (p.Ala131Glu) rs982468554 0.00001
NM_006790.3(MYOT):c.424A>G (p.Ile142Val) rs771238896 0.00001
NM_006790.3(MYOT):c.686G>A (p.Ser229Asn) rs193920888 0.00001
NM_006790.3(MYOT):c.752G>A (p.Arg251His) rs1477747475 0.00001
NM_006790.3(MYOT):c.998C>T (p.Thr333Ile) rs758194318 0.00001
NM_138638.5(CFL2):c.73A>G (p.Thr25Ala) rs1004680147 0.00001
NM_152393.4(KLHL40):c.557T>A (p.Leu186His) rs777496833 0.00001
NM_000036.3(AMPD1):c.1096C>T (p.Arg366Cys)
NM_000036.3(AMPD1):c.1163G>A (p.Arg388Gln)
NM_000036.3(AMPD1):c.124G>A (p.Asp42Asn)
NM_000036.3(AMPD1):c.1319C>T (p.Ser440Phe)
NM_000036.3(AMPD1):c.1619C>G (p.Ser540Cys)
NM_000036.3(AMPD1):c.1684C>T (p.Arg562Ter)
NM_000036.3(AMPD1):c.1931T>A (p.Ile644Asn)
NM_000036.3(AMPD1):c.2063T>C (p.Leu688Ser)
NM_000036.3(AMPD1):c.2171G>A (p.Arg724His)
NM_000036.3(AMPD1):c.2183G>A (p.Arg728His)
NM_000036.3(AMPD1):c.236G>A (p.Arg79Gln) rs200543002
NM_000036.3(AMPD1):c.304T>C (p.Tyr102His)
NM_000036.3(AMPD1):c.329A>C (p.Gln110Pro)
NM_000036.3(AMPD1):c.35-2A>G
NM_000036.3(AMPD1):c.587G>A (p.Arg196Gln)
NM_000036.3(AMPD1):c.5del (p.Pro2fs) rs557878856
NM_000036.3(AMPD1):c.640G>T (p.Val214Leu)
NM_000036.3(AMPD1):c.659A>G (p.Asn220Ser)
NM_000036.3(AMPD1):c.773C>G (p.Thr258Ser)
NM_000036.3(AMPD1):c.788G>A (p.Arg263His)
NM_000036.3(AMPD1):c.810G>A (p.Lys270=)
NM_000036.3(AMPD1):c.942T>A (p.His314Gln)
NM_000036.3(AMPD1):c.988G>A (p.Val330Met)
NM_000116.5(TAFAZZIN):c.29C>G (p.Pro10Arg) rs781941217
NM_000116.5(TAFAZZIN):c.347G>A (p.Gly116Asp) rs727504327
NM_000116.5(TAFAZZIN):c.412C>G (p.Leu138Val)
NM_000183.3(HADHB):c.1252A>G (p.Asn418Asp)
NM_000183.3(HADHB):c.1399A>C (p.Met467Leu)
NM_001040436.3(YARS2):c.1241G>T (p.Arg414Leu)
NM_001101362.3(KBTBD13):c.166G>A (p.Gly56Arg)
NM_001101362.3(KBTBD13):c.176_177delinsAG (p.Arg59Gln)
NM_001101362.3(KBTBD13):c.238C>T (p.Gln80Ter) rs886051333
NM_001101362.3(KBTBD13):c.350G>C (p.Gly117Ala)
NM_001101362.3(KBTBD13):c.496G>C (p.Ala166Pro) rs777916743
NM_001101362.3(KBTBD13):c.581C>T (p.Pro194Leu) rs1481658087
NM_001101362.3(KBTBD13):c.634_638del (p.Tyr212fs) rs748327666
NM_001101362.3(KBTBD13):c.718G>A (p.Glu240Lys) rs1293899823
NM_001953.5(TYMP):c.228G>A (p.Met76Ile) rs1064792859
NM_006063.3(KLHL41):c.1432C>G (p.Leu478Val)
NM_006063.3(KLHL41):c.1666G>A (p.Glu556Lys)
NM_006063.3(KLHL41):c.427C>T (p.Leu143Phe)
NM_006790.3(MYOT):c.1084G>A (p.Glu362Lys)
NM_006790.3(MYOT):c.1234G>C (p.Asp412His)
NM_006790.3(MYOT):c.1294A>T (p.Thr432Ser)
NM_006790.3(MYOT):c.1401T>A (p.Asn467Lys) rs145427063
NM_006790.3(MYOT):c.1418T>C (p.Val473Ala) rs748921791
NM_006790.3(MYOT):c.151A>G (p.Arg51Gly) rs2149978850
NM_006790.3(MYOT):c.170del (p.Thr57fs)
NM_006790.3(MYOT):c.225G>C (p.Gln75His)
NM_006790.3(MYOT):c.280G>A (p.Ala94Thr)
NM_006790.3(MYOT):c.343G>T (p.Ala115Ser) rs114194130
NM_006790.3(MYOT):c.392C>T (p.Ala131Val)
NM_006790.3(MYOT):c.409G>A (p.Ala137Thr)
NM_006790.3(MYOT):c.508A>C (p.Thr170Pro)
NM_006790.3(MYOT):c.556G>T (p.Ala186Ser)
NM_006790.3(MYOT):c.563G>A (p.Arg188Lys)
NM_006790.3(MYOT):c.609T>A (p.Asp203Glu) rs1561660796
NM_006790.3(MYOT):c.680_683del (p.Val227fs) rs775014749
NM_006790.3(MYOT):c.775A>G (p.Met259Val)
NM_006790.3(MYOT):c.866C>G (p.Thr289Arg)
NM_018116.4(MSTO1):c.1034G>A (p.Arg345His)
NM_018116.4(MSTO1):c.220+5G>C
NM_078470.6(COX15):c.211C>T (p.Arg71Ter)
NM_138638.5(CFL2):c.230T>G (p.Leu77Arg)
NM_138638.5(CFL2):c.327A>G (p.Ala109=)
NM_138638.5(CFL2):c.500A>G (p.Ter167=)
NM_152393.4(KLHL40):c.1327G>A (p.Gly443Ser)
NM_152393.4(KLHL40):c.460G>A (p.Asp154Asn)
NM_152393.4(KLHL40):c.601_615del (p.Trp201_Gly205del)
NM_152393.4(KLHL40):c.632C>T (p.Ala211Val)
NM_152393.4(KLHL40):c.931C>A (p.Arg311Ser) rs763283033
NM_178554.6(KY):c.1895C>G (p.Ala632Gly)
NM_178554.6(KY):c.21C>G (p.Ile7Met)
NM_198271.5(LMOD3):c.1368C>G (p.Asn456Lys)
NM_198271.5(LMOD3):c.214G>A (p.Val72Ile)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.