ClinVar Miner

List of variants reported as uncertain significance for autosomal recessive limb-girdle muscular dystrophy type 2U

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 178
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HGVS dbSNP gnomAD frequency
NM_001101426.4(CRPPA):c.79A>C (p.Thr27Pro) rs558064127 0.00220
NM_001101426.4(CRPPA):c.1218T>G (p.Ile406Met) rs202011820 0.00068
NM_001101426.4(CRPPA):c.808C>T (p.Leu270Phe) rs200334999 0.00045
NM_001101426.4(CRPPA):c.693C>A (p.Asp231Glu) rs770257307 0.00016
NM_001101426.4(CRPPA):c.985C>A (p.Gln329Lys) rs202126749 0.00014
NM_001101426.4(CRPPA):c.1010A>G (p.Asn337Ser) rs369832637 0.00012
NM_001101426.4(CRPPA):c.532G>A (p.Gly178Arg) rs202108204 0.00011
NM_001101426.4(CRPPA):c.320G>T (p.Ser107Ile) rs199691459 0.00010
NM_001101426.4(CRPPA):c.277A>G (p.Ile93Val) rs762370550 0.00009
NM_001101426.4(CRPPA):c.776C>T (p.Pro259Leu) rs369193825 0.00009
NM_001101426.4(CRPPA):c.914T>G (p.Val305Gly) rs370397489 0.00008
NM_001101426.4(CRPPA):c.990C>G (p.Ile330Met) rs373422736 0.00008
NM_001101426.4(CRPPA):c.226C>G (p.Leu76Val) rs939213590 0.00006
NM_001101426.4(CRPPA):c.551G>A (p.Arg184Gln) rs773739293 0.00006
NM_001101426.4(CRPPA):c.626G>C (p.Arg209Thr) rs374054216 0.00005
NM_001101426.4(CRPPA):c.304A>G (p.Met102Val) rs763300192 0.00004
NM_001101426.4(CRPPA):c.307G>A (p.Glu103Lys) rs775902619 0.00004
NM_001101426.4(CRPPA):c.347G>A (p.Arg116His) rs748777770 0.00004
NM_001101426.4(CRPPA):c.881A>G (p.Asp294Gly) rs547473863 0.00004
NM_001101426.4(CRPPA):c.200A>C (p.Gln67Pro) rs886043637 0.00003
NM_001101426.4(CRPPA):c.362A>G (p.Glu121Gly) rs757846188 0.00003
NM_001101426.4(CRPPA):c.614G>A (p.Arg205His) rs566179705 0.00003
NM_001101426.4(CRPPA):c.695A>G (p.Tyr232Cys) rs200114996 0.00003
NM_001101426.4(CRPPA):c.815C>T (p.Ala272Val) rs765545106 0.00003
NM_001101426.4(CRPPA):c.827T>C (p.Ile276Thr) rs1314571093 0.00003
NM_001101426.4(CRPPA):c.161G>T (p.Gly54Val) rs587777797 0.00002
NM_001101426.4(CRPPA):c.221G>C (p.Arg74Thr) rs1292380177 0.00002
NM_001101426.4(CRPPA):c.661G>A (p.Val221Met) rs749732549 0.00002
NM_001101426.4(CRPPA):c.1045C>A (p.Gln349Lys) rs774852908 0.00001
NM_001101426.4(CRPPA):c.1192G>A (p.Ala398Thr) rs762217429 0.00001
NM_001101426.4(CRPPA):c.1226A>G (p.Tyr409Cys) rs1325845862 0.00001
NM_001101426.4(CRPPA):c.1234C>G (p.Leu412Val) rs747967711 0.00001
NM_001101426.4(CRPPA):c.1251+2T>C rs370373583 0.00001
NM_001101426.4(CRPPA):c.1282C>A (p.Gln428Lys) rs985567350 0.00001
NM_001101426.4(CRPPA):c.1301C>T (p.Ala434Val) rs886044370 0.00001
NM_001101426.4(CRPPA):c.1354T>A (p.Ter452Arg) rs186882839 0.00001
NM_001101426.4(CRPPA):c.136G>C (p.Ala46Pro) rs886043286 0.00001
NM_001101426.4(CRPPA):c.139G>A (p.Val47Met) rs886043960 0.00001
NM_001101426.4(CRPPA):c.13C>T (p.Pro5Ser) rs1037010291 0.00001
NM_001101426.4(CRPPA):c.193C>A (p.Pro65Thr) rs886042489 0.00001
NM_001101426.4(CRPPA):c.1A>G (p.Met1Val) rs886043573 0.00001
NM_001101426.4(CRPPA):c.283G>T (p.Val95Leu) rs751704613 0.00001
NM_001101426.4(CRPPA):c.315G>A (p.Met105Ile) rs1190661385 0.00001
NM_001101426.4(CRPPA):c.332A>G (p.Lys111Arg) rs373082181 0.00001
NM_001101426.4(CRPPA):c.361G>A (p.Glu121Lys) rs764542382 0.00001
NM_001101426.4(CRPPA):c.37G>A (p.Glu13Lys) rs1403508868 0.00001
NM_001101426.4(CRPPA):c.409C>G (p.Leu137Val) rs769346091 0.00001
NM_001101426.4(CRPPA):c.533G>C (p.Gly178Ala) rs747435762 0.00001
NM_001101426.4(CRPPA):c.547A>G (p.Ile183Val) rs1330602558 0.00001
NM_001101426.4(CRPPA):c.571G>A (p.Val191Ile) rs757165158 0.00001
NM_001101426.4(CRPPA):c.58G>A (p.Gly20Ser) rs920749386 0.00001
NM_001101426.4(CRPPA):c.636A>C (p.Glu212Asp) rs1008210645 0.00001
NM_001101426.4(CRPPA):c.658G>C (p.Asp220His) rs1210618248 0.00001
NM_001101426.4(CRPPA):c.685-3C>T rs776027620 0.00001
NM_001101426.4(CRPPA):c.715G>A (p.Glu239Lys) rs778786691 0.00001
NM_001101426.4(CRPPA):c.7G>C (p.Ala3Pro) rs794726893 0.00001
NM_001101426.4(CRPPA):c.803G>A (p.Arg268Gln) rs757986706 0.00001
NM_001101426.4(CRPPA):c.839G>T (p.Arg280Ile) rs761189549 0.00001
NM_001101426.4(CRPPA):c.890A>C (p.His297Pro) rs1562603563 0.00001
NM_001101426.4(CRPPA):c.899A>G (p.His300Arg) rs1345477841 0.00001
NM_001101426.4(CRPPA):c.905T>C (p.Leu302Pro) rs747622460 0.00001
NM_001101426.4(CRPPA):c.933+3A>G rs377582530 0.00001
NM_001101426.4(CRPPA):c.935A>G (p.His312Arg) rs555932095 0.00001
NM_001101426.4(CRPPA):c.95T>C (p.Leu32Pro) rs1020950940 0.00001
NM_001101426.4(CRPPA):c.993C>G (p.Ile331Met) rs1783720553 0.00001
NC_000007.13:g.(?_16131310)_(16131434_?)dup
NC_000007.13:g.(?_16131310)_(16460957_?)dup
NC_000007.13:g.(?_16131320)_(16348272_?)dup
NC_000007.13:g.(?_16341026)_(16460947_?)dup
NC_000007.13:g.(?_16415697)_(16415886_?)dup
NC_000007.13:g.(?_16415697)_(16460947_?)dup
NC_000007.14:g.(?_16216056)_(16216207_?)del
NM_001101426.4(CRPPA):c.-14_10del (p.Met1_Gly4del)
NM_001101426.4(CRPPA):c.101G>A (p.Ser34Asn)
NM_001101426.4(CRPPA):c.1026+5G>C rs762349005
NM_001101426.4(CRPPA):c.1040A>T (p.Asp347Val) rs1583472575
NM_001101426.4(CRPPA):c.1081A>G (p.Ser361Gly)
NM_001101426.4(CRPPA):c.1082G>A (p.Ser361Asn) rs2128412318
NM_001101426.4(CRPPA):c.1112T>C (p.Val371Ala)
NM_001101426.4(CRPPA):c.1119+3A>G rs1783701192
NM_001101426.4(CRPPA):c.1120-3C>G
NM_001101426.4(CRPPA):c.1133A>G (p.Asp378Gly) rs1391543167
NM_001101426.4(CRPPA):c.1139A>T (p.Lys380Ile) rs747075828
NM_001101426.4(CRPPA):c.1148C>A (p.Pro383His) rs758393771
NM_001101426.4(CRPPA):c.1175T>G (p.Met392Arg) rs1782301148
NM_001101426.4(CRPPA):c.1183A>G (p.Arg395Gly) rs957843384
NM_001101426.4(CRPPA):c.118C>G (p.Pro40Ala)
NM_001101426.4(CRPPA):c.121G>A (p.Gly41Arg)
NM_001101426.4(CRPPA):c.1224A>T (p.Leu408Phe) rs931469039
NM_001101426.4(CRPPA):c.124C>T (p.Arg42Cys) rs1415518757
NM_001101426.4(CRPPA):c.1252-3C>T rs2128361106
NM_001101426.4(CRPPA):c.1252G>T (p.Asp418Tyr) rs1781843954
NM_001101426.4(CRPPA):c.1272G>C (p.Glu424Asp) rs2064970438
NM_001101426.4(CRPPA):c.1275T>A (p.Ser425Arg) rs1781843424
NM_001101426.4(CRPPA):c.1310T>C (p.Ile437Thr)
NM_001101426.4(CRPPA):c.1350A>G (p.Ile450Met) rs1781841345
NM_001101426.4(CRPPA):c.1354T>C (p.Ter452Arg) rs186882839
NM_001101426.4(CRPPA):c.160G>T (p.Gly54Trp) rs1036959263
NM_001101426.4(CRPPA):c.172G>A (p.Glu58Lys)
NM_001101426.4(CRPPA):c.178A>T (p.Met60Leu)
NM_001101426.4(CRPPA):c.181G>C (p.Gly61Arg)
NM_001101426.4(CRPPA):c.211A>G (p.Ile71Val)
NM_001101426.4(CRPPA):c.21_44del (p.Ser8_Gly15del)
NM_001101426.4(CRPPA):c.220A>G (p.Arg74Gly) rs1788324318
NM_001101426.4(CRPPA):c.221G>T (p.Arg74Met) rs1292380177
NM_001101426.4(CRPPA):c.245A>C (p.Gln82Pro) rs949985964
NM_001101426.4(CRPPA):c.245A>G (p.Gln82Arg) rs949985964
NM_001101426.4(CRPPA):c.247G>T (p.Ala83Ser) rs2128321450
NM_001101426.4(CRPPA):c.258-3T>G rs899936625
NM_001101426.4(CRPPA):c.25G>A (p.Ala9Thr) rs909976918
NM_001101426.4(CRPPA):c.262T>C (p.Cys88Arg) rs1384501487
NM_001101426.4(CRPPA):c.303C>A (p.Asn101Lys) rs1787953727
NM_001101426.4(CRPPA):c.315G>T (p.Met105Ile) rs1190661385
NM_001101426.4(CRPPA):c.32C>T (p.Pro11Leu) rs192925278
NM_001101426.4(CRPPA):c.334T>G (p.Tyr112Asp) rs1281479457
NM_001101426.4(CRPPA):c.346C>G (p.Arg116Gly)
NM_001101426.4(CRPPA):c.356T>A (p.Leu119Gln) rs1356080750
NM_001101426.4(CRPPA):c.368G>T (p.Gly123Val) rs2128318458
NM_001101426.4(CRPPA):c.36_44del (p.Glu13_Gly15del) rs990740417
NM_001101426.4(CRPPA):c.376C>G (p.Arg126Gly) rs1472549168
NM_001101426.4(CRPPA):c.376C>T (p.Arg126Cys) rs1472549168
NM_001101426.4(CRPPA):c.394A>T (p.Asn132Tyr) rs2128318452
NM_001101426.4(CRPPA):c.412G>T (p.Ala138Ser) rs1787948983
NM_001101426.4(CRPPA):c.425T>A (p.Ile142Asn) rs1554363950
NM_001101426.4(CRPPA):c.426C>G (p.Ile142Met)
NM_001101426.4(CRPPA):c.43G>T (p.Gly15Cys) rs1314652586
NM_001101426.4(CRPPA):c.44G>T (p.Gly15Val) rs573488291
NM_001101426.4(CRPPA):c.463C>T (p.His155Tyr)
NM_001101426.4(CRPPA):c.496G>A (p.Val166Ile) rs2128318425
NM_001101426.4(CRPPA):c.508G>A (p.Val170Ile) rs762819997
NM_001101426.4(CRPPA):c.526G>A (p.Glu176Lys) rs2128318414
NM_001101426.4(CRPPA):c.52C>G (p.Leu18Val) rs886043287
NM_001101426.4(CRPPA):c.534G>C (p.Gly178=) rs200798632
NM_001101426.4(CRPPA):c.550C>G (p.Arg184Gly) rs370499190
NM_001101426.4(CRPPA):c.565A>T (p.Thr189Ser) rs1786881434
NM_001101426.4(CRPPA):c.577C>T (p.Pro193Ser) rs1275411039
NM_001101426.4(CRPPA):c.602A>T (p.Tyr201Phe) rs1198960792
NM_001101426.4(CRPPA):c.614G>T (p.Arg205Leu)
NM_001101426.4(CRPPA):c.623A>G (p.His208Arg)
NM_001101426.4(CRPPA):c.634G>A (p.Glu212Lys) rs2128312068
NM_001101426.4(CRPPA):c.635A>C (p.Glu212Ala) rs2128312067
NM_001101426.4(CRPPA):c.640C>A (p.Pro214Thr) rs886043226
NM_001101426.4(CRPPA):c.641C>T (p.Pro214Leu)
NM_001101426.4(CRPPA):c.643C>A (p.Gln215Lys) rs370627877
NM_001101426.4(CRPPA):c.646G>T (p.Ala216Ser) rs1786876478
NM_001101426.4(CRPPA):c.659A>G (p.Asp220Gly) rs769223335
NM_001101426.4(CRPPA):c.674C>G (p.Ala225Gly) rs1786875241
NM_001101426.4(CRPPA):c.686G>A (p.Cys229Tyr) rs2128424737
NM_001101426.4(CRPPA):c.691G>C (p.Asp231His) rs1784967390
NM_001101426.4(CRPPA):c.6G>T (p.Glu2Asp) rs2128321553
NM_001101426.4(CRPPA):c.706T>G (p.Phe236Val)
NM_001101426.4(CRPPA):c.713C>G (p.Thr238Ser) rs397515409
NM_001101426.4(CRPPA):c.713C>T (p.Thr238Ile) rs397515409
NM_001101426.4(CRPPA):c.729G>T (p.Leu243Phe) rs1784965639
NM_001101426.4(CRPPA):c.737A>G (p.Lys246Arg) rs1583508021
NM_001101426.4(CRPPA):c.764T>C (p.Val255Ala) rs2128424716
NM_001101426.4(CRPPA):c.77A>C (p.His26Pro) rs886044190
NM_001101426.4(CRPPA):c.784T>A (p.Trp262Arg)
NM_001101426.4(CRPPA):c.789+89_789+90delinsGA
NM_001101426.4(CRPPA):c.824C>T (p.Ser275Leu) rs1784787407
NM_001101426.4(CRPPA):c.82G>C (p.Ala28Pro) rs2128321512
NM_001101426.4(CRPPA):c.845C>T (p.Ser282Phe)
NM_001101426.4(CRPPA):c.847C>G (p.Gln283Glu) rs750477422
NM_001101426.4(CRPPA):c.854T>G (p.Ile285Ser)
NM_001101426.4(CRPPA):c.865A>G (p.Met289Val)
NM_001101426.4(CRPPA):c.866T>G (p.Met289Arg)
NM_001101426.4(CRPPA):c.868G>A (p.Asp290Asn) rs1784249249
NM_001101426.4(CRPPA):c.869A>G (p.Asp290Gly)
NM_001101426.4(CRPPA):c.872C>A (p.Thr291Lys) rs764380983
NM_001101426.4(CRPPA):c.872C>T (p.Thr291Ile)
NM_001101426.4(CRPPA):c.874_875delinsAG (p.Glu292Arg) rs1583487638
NM_001101426.4(CRPPA):c.895G>C (p.Gly299Arg) rs373890080
NM_001101426.4(CRPPA):c.895G>T (p.Gly299Cys) rs373890080
NM_001101426.4(CRPPA):c.907G>C (p.Glu303Gln)
NM_001101426.4(CRPPA):c.934-14T>A
NM_001101426.4(CRPPA):c.991A>G (p.Ile331Val) rs886044693
NM_001101426.4(CRPPA):c.992T>C (p.Ile331Thr) rs369141466
NM_001101426.4(CRPPA):c.999T>A (p.Asp333Glu) rs376909665

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