ClinVar Miner

List of variants in gene combination LOC112577517, TOR1AIP1 reported as uncertain significance for autosomal recessive limb-girdle muscular dystrophy type 2Y

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 92
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HGVS dbSNP gnomAD frequency
NM_015602.4(TOR1AIP1):c.155A>T (p.Gln52Leu) rs139690983 0.00054
NM_015602.4(TOR1AIP1):c.452T>C (p.Leu151Pro) rs373049289 0.00015
NM_015602.4(TOR1AIP1):c.373C>G (p.Arg125Gly) rs201023108 0.00008
NM_015602.4(TOR1AIP1):c.281C>G (p.Ser94Cys) rs780616161 0.00007
NM_015602.4(TOR1AIP1):c.119G>C (p.Ser40Thr) rs768257163 0.00006
NM_015602.4(TOR1AIP1):c.125C>T (p.Ala42Val) rs376697448 0.00006
NM_015602.4(TOR1AIP1):c.301G>A (p.Glu101Lys) rs376720897 0.00006
NM_015602.4(TOR1AIP1):c.37G>A (p.Glu13Lys) rs749592068 0.00006
NM_015602.4(TOR1AIP1):c.463C>T (p.His155Tyr) rs540366779 0.00006
NM_015602.4(TOR1AIP1):c.241G>A (p.Val81Met) rs376847458 0.00005
NM_015602.4(TOR1AIP1):c.55G>A (p.Val19Ile) rs760887402 0.00005
NM_015602.4(TOR1AIP1):c.272G>A (p.Arg91Gln) rs769686590 0.00004
NM_015602.4(TOR1AIP1):c.467C>T (p.Ser156Phe) rs759689850 0.00004
NM_015602.4(TOR1AIP1):c.305G>A (p.Ser102Asn) rs375448136 0.00003
NM_015602.4(TOR1AIP1):c.327G>C (p.Arg109Ser) rs770530581 0.00003
NM_015602.4(TOR1AIP1):c.205G>T (p.Asp69Tyr) rs537204281 0.00002
NM_015602.4(TOR1AIP1):c.289G>A (p.Glu97Lys) rs761950048 0.00002
NM_015602.4(TOR1AIP1):c.454C>T (p.Arg152Trp) rs771916953 0.00002
NM_015602.4(TOR1AIP1):c.101C>A (p.Pro34His) rs771167764 0.00001
NM_015602.4(TOR1AIP1):c.112G>A (p.Gly38Ser) rs777102321 0.00001
NM_015602.4(TOR1AIP1):c.139A>C (p.Thr47Pro) rs1553240716 0.00001
NM_015602.4(TOR1AIP1):c.142C>T (p.Pro48Ser) rs765495241 0.00001
NM_015602.4(TOR1AIP1):c.274T>A (p.Ser92Thr) rs775375281 0.00001
NM_015602.4(TOR1AIP1):c.286A>G (p.Lys96Glu) rs1647762682 0.00001
NM_015602.4(TOR1AIP1):c.308C>T (p.Ala103Val) rs777465166 0.00001
NM_015602.4(TOR1AIP1):c.35G>A (p.Arg12Gln) rs780125585 0.00001
NM_015602.4(TOR1AIP1):c.366G>A (p.Met122Ile) rs766817911 0.00001
NM_015602.4(TOR1AIP1):c.371C>T (p.Thr124Met) rs377375784 0.00001
NM_015602.4(TOR1AIP1):c.380C>T (p.Thr127Ile) rs200812894 0.00001
NM_015602.4(TOR1AIP1):c.404C>T (p.Ser135Leu) rs760733600 0.00001
NM_015602.4(TOR1AIP1):c.43T>C (p.Trp15Arg) rs748263394 0.00001
NM_015602.4(TOR1AIP1):c.443G>C (p.Arg148Thr) rs1376862055 0.00001
NM_015602.4(TOR1AIP1):c.455G>A (p.Arg152Gln) rs773422033 0.00001
NM_015602.4(TOR1AIP1):c.457G>A (p.Asp153Asn) rs1647780800 0.00001
NM_015602.4(TOR1AIP1):c.47G>T (p.Gly16Val) rs773770986 0.00001
NM_015602.4(TOR1AIP1):c.79G>A (p.Glu27Lys) rs750432849 0.00001
NM_015602.4(TOR1AIP1):c.80A>T (p.Glu27Val) rs1647741420 0.00001
NM_015602.4(TOR1AIP1):c.83G>A (p.Gly28Glu) rs1008146553 0.00001
NM_015602.4(TOR1AIP1):c.88G>C (p.Gly30Arg) rs779312410 0.00001
NM_015602.4(TOR1AIP1):c.11A>G (p.Asp4Gly)
NM_015602.4(TOR1AIP1):c.121G>A (p.Asp41Asn) rs548996424
NM_015602.4(TOR1AIP1):c.121G>T (p.Asp41Tyr) rs548996424
NM_015602.4(TOR1AIP1):c.134A>C (p.Tyr45Ser)
NM_015602.4(TOR1AIP1):c.137G>A (p.Arg46Lys)
NM_015602.4(TOR1AIP1):c.140C>T (p.Thr47Ile)
NM_015602.4(TOR1AIP1):c.163C>G (p.Arg55Gly) rs1248211584
NM_015602.4(TOR1AIP1):c.164G>A (p.Arg55Gln) rs770204192
NM_015602.4(TOR1AIP1):c.173G>A (p.Arg58Lys) rs1647752093
NM_015602.4(TOR1AIP1):c.177C>A (p.Phe59Leu) rs1553240735
NM_015602.4(TOR1AIP1):c.179C>G (p.Ser60Trp)
NM_015602.4(TOR1AIP1):c.184G>A (p.Glu62Lys)
NM_015602.4(TOR1AIP1):c.188C>T (p.Pro63Leu) rs148576898
NM_015602.4(TOR1AIP1):c.197T>A (p.Val66Glu) rs759389044
NM_015602.4(TOR1AIP1):c.20G>A (p.Arg7Gln) rs1647735292
NM_015602.4(TOR1AIP1):c.230A>G (p.Glu77Gly) rs1279097987
NM_015602.4(TOR1AIP1):c.249A>C (p.Lys83Asn)
NM_015602.4(TOR1AIP1):c.251G>T (p.Arg84Leu)
NM_015602.4(TOR1AIP1):c.25G>A (p.Glu9Lys) rs1647735595
NM_015602.4(TOR1AIP1):c.262G>C (p.Glu88Gln) rs1571719035
NM_015602.4(TOR1AIP1):c.267G>C (p.Glu89Asp)
NM_015602.4(TOR1AIP1):c.268T>A (p.Phe90Ile) rs1331015462
NM_015602.4(TOR1AIP1):c.271C>T (p.Arg91Trp)
NM_015602.4(TOR1AIP1):c.283G>A (p.Ala95Thr) rs751742803
NM_015602.4(TOR1AIP1):c.290A>G (p.Glu97Gly)
NM_015602.4(TOR1AIP1):c.296T>C (p.Val99Ala) rs1571719094
NM_015602.4(TOR1AIP1):c.29C>A (p.Ala10Glu) rs1304415641
NM_015602.4(TOR1AIP1):c.304A>G (p.Ser102Gly)
NM_015602.4(TOR1AIP1):c.323C>T (p.Ser108Phe) rs1347375251
NM_015602.4(TOR1AIP1):c.326G>A (p.Arg109Lys)
NM_015602.4(TOR1AIP1):c.338A>C (p.Gln113Pro) rs2148468796
NM_015602.4(TOR1AIP1):c.339G>T (p.Gln113His)
NM_015602.4(TOR1AIP1):c.350A>T (p.Gln117Leu)
NM_015602.4(TOR1AIP1):c.351G>C (p.Gln117His)
NM_015602.4(TOR1AIP1):c.360G>T (p.Glu120Asp)
NM_015602.4(TOR1AIP1):c.372_383del (p.Arg126_Arg129del) rs1647770427
NM_015602.4(TOR1AIP1):c.383C>T (p.Thr128Ile) rs1647773232
NM_015602.4(TOR1AIP1):c.38A>T (p.Glu13Val) rs768829514
NM_015602.4(TOR1AIP1):c.413C>T (p.Pro138Leu) rs1374010658
NM_015602.4(TOR1AIP1):c.416C>G (p.Pro139Arg)
NM_015602.4(TOR1AIP1):c.425C>T (p.Pro142Leu) rs199709287
NM_015602.4(TOR1AIP1):c.444G>T (p.Arg148Ser)
NM_015602.4(TOR1AIP1):c.455G>T (p.Arg152Leu) rs773422033
NM_015602.4(TOR1AIP1):c.460T>A (p.Ser154Thr) rs771016825
NM_015602.4(TOR1AIP1):c.4G>A (p.Ala2Thr)
NM_015602.4(TOR1AIP1):c.56T>A (p.Val19Asp) rs1189600415
NM_015602.4(TOR1AIP1):c.62C>T (p.Pro21Leu) rs774997818
NM_015602.4(TOR1AIP1):c.64A>G (p.Arg22Gly) rs1647739818
NM_015602.4(TOR1AIP1):c.65G>A (p.Arg22Lys)
NM_015602.4(TOR1AIP1):c.68C>A (p.Ala23Asp)
NM_015602.4(TOR1AIP1):c.71C>G (p.Pro24Arg) rs1553240696
NM_015602.4(TOR1AIP1):c.7G>A (p.Gly3Ser)
NM_015602.4(TOR1AIP1):c.81G>C (p.Glu27Asp)

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