ClinVar Miner

List of variants reported as uncertain significance for Lafora disease by Invitae

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ClinVar version:
Total variants: 149
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HGVS dbSNP gnomAD frequency
NM_198586.3(NHLRC1):c.551A>G (p.Asn184Ser) rs138667242 0.00038
NM_198586.3(NHLRC1):c.874A>T (p.Thr292Ser) rs200214191 0.00030
NM_198586.3(NHLRC1):c.178C>T (p.His60Tyr) rs539307365 0.00021
NM_198586.3(NHLRC1):c.740C>T (p.Ala247Val) rs367906378 0.00006
NM_198586.3(NHLRC1):c.805G>A (p.Val269Met) rs140164729 0.00006
NM_198586.3(NHLRC1):c.721C>G (p.Leu241Val) rs772155104 0.00005
NM_198586.3(NHLRC1):c.1064C>T (p.Pro355Leu) rs144863228 0.00004
NM_198586.3(NHLRC1):c.1090T>A (p.Ser364Thr) rs370044232 0.00004
NM_198586.3(NHLRC1):c.424G>C (p.Val142Leu) rs376655413 0.00004
NM_198586.3(NHLRC1):c.1072A>G (p.Met358Val) rs765443391 0.00003
NM_198586.3(NHLRC1):c.1087C>G (p.Leu363Val) rs1275828844 0.00003
NM_198586.3(NHLRC1):c.122C>A (p.Pro41Gln) rs759908693 0.00003
NM_198586.3(NHLRC1):c.337G>A (p.Ala113Thr) rs570505924 0.00003
NM_198586.3(NHLRC1):c.1027A>G (p.Ile343Val) rs750935925 0.00002
NM_198586.3(NHLRC1):c.103C>G (p.His35Asp) rs752045674 0.00002
NM_198586.3(NHLRC1):c.1142A>G (p.Asp381Gly) rs200201752 0.00002
NM_198586.3(NHLRC1):c.1174G>A (p.Val392Ile) rs765576968 0.00002
NM_198586.3(NHLRC1):c.196C>T (p.Leu66Phe) rs553900705 0.00002
NM_198586.3(NHLRC1):c.234C>G (p.Cys78Trp) rs755232826 0.00002
NM_198586.3(NHLRC1):c.308C>T (p.Ala103Val) rs774955028 0.00002
NM_198586.3(NHLRC1):c.481G>A (p.Ala161Thr) rs201476733 0.00002
NM_198586.3(NHLRC1):c.643T>C (p.Phe215Leu) rs753591736 0.00002
NM_198586.3(NHLRC1):c.713C>T (p.Ser238Phe) rs747276703 0.00002
NM_198586.3(NHLRC1):c.1013C>T (p.Thr338Ile) rs1388505858 0.00001
NM_198586.3(NHLRC1):c.1053G>C (p.Glu351Asp) rs377395116 0.00001
NM_198586.3(NHLRC1):c.1058C>T (p.Pro353Leu) rs1440601226 0.00001
NM_198586.3(NHLRC1):c.1076T>A (p.Val359Asp) rs372993582 0.00001
NM_198586.3(NHLRC1):c.1132C>G (p.Leu378Val) rs778364234 0.00001
NM_198586.3(NHLRC1):c.1165G>T (p.Val389Phe) rs541460675 0.00001
NM_198586.3(NHLRC1):c.1166T>A (p.Val389Asp) rs562100142 0.00001
NM_198586.3(NHLRC1):c.218G>A (p.Arg73Gln) rs1280991443 0.00001
NM_198586.3(NHLRC1):c.243C>A (p.Ser81Arg) rs1174745955 0.00001
NM_198586.3(NHLRC1):c.307G>T (p.Ala103Ser) rs568131096 0.00001
NM_198586.3(NHLRC1):c.313C>A (p.Arg105Ser) rs909097062 0.00001
NM_198586.3(NHLRC1):c.322C>T (p.Pro108Ser) rs1467326281 0.00001
NM_198586.3(NHLRC1):c.374C>A (p.Thr125Asn) rs1085307861 0.00001
NM_198586.3(NHLRC1):c.389C>A (p.Thr130Asn) rs1294825458 0.00001
NM_198586.3(NHLRC1):c.415G>A (p.Gly139Arg) rs1783749311 0.00001
NM_198586.3(NHLRC1):c.418C>T (p.Arg140Cys) rs148035405 0.00001
NM_198586.3(NHLRC1):c.48G>A (p.Met16Ile) rs1233490914 0.00001
NM_198586.3(NHLRC1):c.49C>A (p.Arg17Ser) rs368134036 0.00001
NM_198586.3(NHLRC1):c.52G>C (p.Glu18Gln) rs771805307 0.00001
NM_198586.3(NHLRC1):c.584A>G (p.Asp195Gly) rs367649330 0.00001
NM_198586.3(NHLRC1):c.599T>C (p.Val200Ala) rs746239356 0.00001
NM_198586.3(NHLRC1):c.5C>A (p.Ala2Glu) rs963295265 0.00001
NM_198586.3(NHLRC1):c.612T>G (p.Phe204Leu) rs201058506 0.00001
NM_198586.3(NHLRC1):c.659G>A (p.Gly220Asp) rs1449381352 0.00001
NM_198586.3(NHLRC1):c.713C>G (p.Ser238Cys) rs747276703 0.00001
NM_198586.3(NHLRC1):c.755G>A (p.Arg252Gln) rs371072212 0.00001
NM_198586.3(NHLRC1):c.773A>G (p.Gln258Arg) rs377025668 0.00001
NM_198586.3(NHLRC1):c.782T>C (p.Leu261Pro) rs879745047 0.00001
NM_198586.3(NHLRC1):c.787A>C (p.Asn263His) rs749287999 0.00001
NM_198586.3(NHLRC1):c.791C>G (p.Pro264Arg) rs796052756 0.00001
NM_198586.3(NHLRC1):c.808T>G (p.Ser270Ala) rs755474952 0.00001
NM_198586.3(NHLRC1):c.821G>T (p.Gly274Val) rs1281512045 0.00001
NM_198586.3(NHLRC1):c.913G>A (p.Gly305Ser) rs752220824 0.00001
NM_198586.3(NHLRC1):c.970G>A (p.Ala324Thr) rs776454075 0.00001
NM_198586.3(NHLRC1):c.1008A>G (p.Ala336=)
NM_198586.3(NHLRC1):c.1034G>A (p.Cys345Tyr) rs781739043
NM_198586.3(NHLRC1):c.1039G>A (p.Gly347Arg) rs1783733675
NM_198586.3(NHLRC1):c.1076T>G (p.Val359Gly)
NM_198586.3(NHLRC1):c.107G>C (p.Arg36Pro) rs764691077
NM_198586.3(NHLRC1):c.10G>A (p.Glu4Lys)
NM_198586.3(NHLRC1):c.1109C>A (p.Thr370Asn) rs1422730903
NM_198586.3(NHLRC1):c.1120G>A (p.Glu374Lys) rs771702699
NM_198586.3(NHLRC1):c.1183G>A (p.Gly395Arg) rs753959228
NM_198586.3(NHLRC1):c.1185del (p.Ter396AspextTer?)
NM_198586.3(NHLRC1):c.121C>T (p.Pro41Ser)
NM_198586.3(NHLRC1):c.154C>G (p.Leu52Val)
NM_198586.3(NHLRC1):c.180C>A (p.His60Gln)
NM_198586.3(NHLRC1):c.182C>A (p.Pro61Gln) rs1783757283
NM_198586.3(NHLRC1):c.182C>T (p.Pro61Leu) rs1783757283
NM_198586.3(NHLRC1):c.184C>T (p.Arg62Cys) rs761458140
NM_198586.3(NHLRC1):c.185G>A (p.Arg62His) rs796052754
NM_198586.3(NHLRC1):c.185G>C (p.Arg62Pro)
NM_198586.3(NHLRC1):c.199G>A (p.Glu67Lys) rs779507031
NM_198586.3(NHLRC1):c.203G>C (p.Cys68Ser) rs1783756475
NM_198586.3(NHLRC1):c.215G>A (p.Arg72Lys) rs1582030466
NM_198586.3(NHLRC1):c.218G>T (p.Arg73Leu) rs1280991443
NM_198586.3(NHLRC1):c.226C>T (p.Arg76Trp)
NM_198586.3(NHLRC1):c.227G>A (p.Arg76Gln)
NM_198586.3(NHLRC1):c.23G>A (p.Ser8Asn) rs2150703425
NM_198586.3(NHLRC1):c.269T>C (p.Ile90Thr) rs1582030401
NM_198586.3(NHLRC1):c.26G>A (p.Gly9Glu)
NM_198586.3(NHLRC1):c.26G>T (p.Gly9Val)
NM_198586.3(NHLRC1):c.272A>G (p.Glu91Gly)
NM_198586.3(NHLRC1):c.293G>T (p.Arg98Leu) rs1340355518
NM_198586.3(NHLRC1):c.301C>T (p.Pro101Ser) rs1484414595
NM_198586.3(NHLRC1):c.307G>A (p.Ala103Thr) rs568131096
NM_198586.3(NHLRC1):c.314G>T (p.Arg105Leu) rs1166657109
NM_198586.3(NHLRC1):c.317C>G (p.Ala106Gly) rs1255416149
NM_198586.3(NHLRC1):c.319G>C (p.Ala107Pro) rs796052755
NM_198586.3(NHLRC1):c.323C>G (p.Pro108Arg) rs1783752059
NM_198586.3(NHLRC1):c.34_35delinsGG (p.Leu12Gly) rs2150703412
NM_198586.3(NHLRC1):c.356C>T (p.Thr119Ile) rs1783751214
NM_198586.3(NHLRC1):c.392G>T (p.Gly131Val) rs1783749949
NM_198586.3(NHLRC1):c.394C>A (p.Leu132Met) rs1367848969
NM_198586.3(NHLRC1):c.397G>A (p.Ala133Thr) rs886061254
NM_198586.3(NHLRC1):c.39T>G (p.His13Gln) rs2150703410
NM_198586.3(NHLRC1):c.406C>T (p.Pro136Ser) rs1561882043
NM_198586.3(NHLRC1):c.407C>T (p.Pro136Leu) rs1783749565
NM_198586.3(NHLRC1):c.423_425del (p.Val144del) rs1783748374
NM_198586.3(NHLRC1):c.434A>C (p.His145Pro) rs1783748075
NM_198586.3(NHLRC1):c.449G>A (p.Arg150His) rs749599233
NM_198586.3(NHLRC1):c.452T>A (p.Val151Asp)
NM_198586.3(NHLRC1):c.454A>G (p.Lys152Glu)
NM_198586.3(NHLRC1):c.456G>C (p.Lys152Asn) rs2150703098
NM_198586.3(NHLRC1):c.469G>A (p.Gly157Arg)
NM_198586.3(NHLRC1):c.470G>A (p.Gly157Glu) rs781300542
NM_198586.3(NHLRC1):c.485A>C (p.His162Pro) rs1217974765
NM_198586.3(NHLRC1):c.494G>A (p.Gly165Glu) rs1554136449
NM_198586.3(NHLRC1):c.4_5delinsAA (p.Ala2Lys) rs796052757
NM_198586.3(NHLRC1):c.519C>T (p.Asp173=)
NM_198586.3(NHLRC1):c.52G>A (p.Glu18Lys) rs771805307
NM_198586.3(NHLRC1):c.551A>C (p.Asn184Thr)
NM_198586.3(NHLRC1):c.553G>C (p.Asp185His)
NM_198586.3(NHLRC1):c.565G>T (p.Val189Phe)
NM_198586.3(NHLRC1):c.637G>A (p.Gly213Ser) rs1783743169
NM_198586.3(NHLRC1):c.642A>T (p.Gln214His) rs754756237
NM_198586.3(NHLRC1):c.646T>G (p.Ser216Ala)
NM_198586.3(NHLRC1):c.659G>T (p.Gly220Val) rs1449381352
NM_198586.3(NHLRC1):c.677A>T (p.Gln226Leu) rs1783742476
NM_198586.3(NHLRC1):c.691G>A (p.Val231Ile) rs1060503098
NM_198586.3(NHLRC1):c.695C>A (p.Thr232Asn) rs371640803
NM_198586.3(NHLRC1):c.695C>T (p.Thr232Ile)
NM_198586.3(NHLRC1):c.704A>G (p.Glu235Gly) rs1173727000
NM_198586.3(NHLRC1):c.713C>A (p.Ser238Tyr) rs747276703
NM_198586.3(NHLRC1):c.729C>G (p.Asp243Glu) rs146420615
NM_198586.3(NHLRC1):c.733G>A (p.Asp245Asn) rs2150702925
NM_198586.3(NHLRC1):c.746G>C (p.Gly249Ala)
NM_198586.3(NHLRC1):c.754C>T (p.Arg252Trp) rs1244886517
NM_198586.3(NHLRC1):c.755G>C (p.Arg252Pro)
NM_198586.3(NHLRC1):c.759A>G (p.Arg253=)
NM_198586.3(NHLRC1):c.775G>T (p.Ala259Ser) rs1783740022
NM_198586.3(NHLRC1):c.797G>A (p.Gly266Glu)
NM_198586.3(NHLRC1):c.809C>A (p.Ser270Tyr) rs2150702863
NM_198586.3(NHLRC1):c.820G>A (p.Gly274Arg) rs568213488
NM_198586.3(NHLRC1):c.820G>C (p.Gly274Arg) rs568213488
NM_198586.3(NHLRC1):c.827T>C (p.Ile276Thr)
NM_198586.3(NHLRC1):c.845C>G (p.Pro282Arg) rs2150702844
NM_198586.3(NHLRC1):c.845C>T (p.Pro282Leu) rs2150702844
NM_198586.3(NHLRC1):c.880G>A (p.Val294Met)
NM_198586.3(NHLRC1):c.893G>T (p.Ser298Ile) rs1783736655
NM_198586.3(NHLRC1):c.896C>T (p.Ser299Leu)
NM_198586.3(NHLRC1):c.930T>C (p.Phe310=)
NM_198586.3(NHLRC1):c.935T>C (p.Leu312Pro) rs2150702790
NM_198586.3(NHLRC1):c.943T>A (p.Tyr315Asn)
NM_198586.3(NHLRC1):c.970G>T (p.Ala324Ser)
NM_198586.3(NHLRC1):c.98T>G (p.Phe33Cys) rs757759398

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