ClinVar Miner

List of variants reported as not provided for peripheral neuropathy by GeneReviews

Included ClinVar conditions (524):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 345
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_000153.4(GALC):c.1685T>C (p.Ile562Thr) rs398607 0.49946
NM_000487.6(ARSA):c.1178C>G (p.Thr393Ser) rs743616 0.48362
NM_000487.6(ARSA):c.1055A>G (p.Asn352Ser) rs2071421 0.19530
NM_000153.4(GALC):c.742G>A (p.Asp248Asn) rs34362748 0.11424
NM_000487.6(ARSA):c.*96A>G rs6151429 0.05120
NM_000153.4(GALC):c.550C>T (p.Arg184Cys) rs1805078 0.03877
NM_002529.4(NTRK1):c.1838G>T (p.Gly613Val) rs6339 0.03698
NM_002529.4(NTRK1):c.1810C>T (p.His604Tyr) rs6336 0.03696
NM_001370658.1(BTD):c.1270G>C (p.Asp424His) rs13078881 0.03225
NM_020247.5(COQ8A):c.993C>T (p.Phe331=) rs41303129 0.01390
NM_000304.4(PMP22):c.353C>T (p.Thr118Met) rs104894619 0.00378
NM_000166.6(GJB1):c.704T>G (p.Phe235Cys) rs104894825 0.00295
NM_000153.4(GALC):c.334A>G (p.Thr112Ala) rs147313927 0.00229
NM_017411.4(SMN2):c.859G>C (p.Gly287Arg) rs121909192 0.00208
NM_024577.4(SH3TC2):c.505T>C (p.Tyr169His) rs80359890 0.00205
NM_014845.6(FIG4):c.122T>C (p.Ile41Thr) rs121908287 0.00117
NM_024577.4(SH3TC2):c.2860C>T (p.Arg954Ter) rs80338933 0.00067
NM_000288.4(PEX7):c.875T>A (p.Leu292Ter) rs1805137 0.00048
NM_000487.6(ARSA):c.465+1G>A rs80338815 0.00046
NM_001370658.1(BTD):c.1308A>C (p.Gln436His) rs80338685 0.00046
NM_001370658.1(BTD):c.451G>A (p.Ala151Thr) rs13073139 0.00039
NM_000487.6(ARSA):c.1283C>T (p.Pro428Leu) rs28940893 0.00037
NM_000784.4(CYP27A1):c.1183C>T (p.Arg395Cys) rs121908096 0.00031
NM_000487.6(ARSA):c.542T>G (p.Ile181Ser) rs74315457 0.00029
NM_000466.3(PEX1):c.2528G>A (p.Gly843Asp) rs61750420 0.00025
NM_000153.4(GALC):c.1901T>C (p.Leu634Ser) rs138577661 0.00018
NM_016035.5(COQ4):c.718C>T (p.Arg240Cys) rs143441644 0.00017
NM_018972.4(GDAP1):c.487C>T (p.Gln163Ter) rs104894077 0.00015
NM_000288.4(PEX7):c.903+1G>C rs148591292 0.00011
NM_001370658.1(BTD):c.1552C>T (p.Arg518Cys) rs80338686 0.00011
NM_000370.3(TTPA):c.513_514insTT (p.Thr172fs) rs397515379 0.00010
NM_000370.3(TTPA):c.575G>A (p.Arg192His) rs121917850 0.00010
NM_000153.4(GALC):c.1586C>T (p.Thr529Met) rs200960659 0.00009
NM_001358921.2(COQ2):c.533A>G (p.Asn178Ser) rs121918232 0.00009
NM_000370.3(TTPA):c.358G>A (p.Ala120Thr) rs143010236 0.00008
NM_000487.6(ARSA):c.641C>T (p.Ala214Val) rs74315467 0.00006
NM_001358921.2(COQ2):c.232A>G (p.Met78Val) rs778094136 0.00006
NM_002617.4(PEX10):c.814_815del (p.Leu272fs) rs61752093 0.00006
NM_020247.5(COQ8A):c.1042C>T (p.Arg348Ter) rs771578775 0.00006
NM_020247.5(COQ8A):c.1645G>A (p.Gly549Ser) rs119468009 0.00006
NM_181882.3(PRX):c.2145T>A (p.Cys715Ter) rs104894707 0.00006
NM_000143.4(FH):c.1127A>C (p.Gln376Pro) rs200796606 0.00005
NM_000288.4(PEX7):c.649G>A (p.Gly217Arg) rs121909152 0.00005
NM_004750.5(CRLF1):c.242G>A (p.Arg81His) rs104894670 0.00005
NM_000370.3(TTPA):c.400C>T (p.Arg134Ter) rs121917851 0.00004
NM_000487.6(ARSA):c.257G>A (p.Arg86Gln) rs74315458 0.00004
NM_000487.6(ARSA):c.293C>T (p.Ser98Phe) rs74315456 0.00004
NM_001386140.1(MTTP):c.1619G>A (p.Arg540His) rs199422220 0.00004
NM_018972.4(GDAP1):c.715C>T (p.Leu239Phe) rs104894080 0.00004
NM_020247.5(COQ8A):c.811C>T (p.Arg271Cys) rs145034527 0.00004
NM_000153.4(GALC):c.1700A>C (p.Tyr567Ser) rs752537626 0.00003
NM_000288.4(PEX7):c.653C>T (p.Ala218Val) rs121909151 0.00003
NM_001358921.2(COQ2):c.440G>A (p.Arg147His) rs121918231 0.00003
NM_002529.4(NTRK1):c.851-33T>A rs80356674 0.00003
NM_015046.7(SETX):c.5927T>G (p.Leu1976Arg) rs121434379 0.00003
NM_020247.5(COQ8A):c.895C>T (p.Arg299Trp) rs201908721 0.00003
NM_024577.4(SH3TC2):c.1972C>T (p.Arg658Cys) rs80338926 0.00003
NM_024577.4(SH3TC2):c.2710C>T (p.Arg904Ter) rs80338931 0.00003
NM_024577.4(SH3TC2):c.3325C>T (p.Arg1109Ter) rs80338934 0.00003
NM_000153.4(GALC):c.857G>A (p.Gly286Asp) rs199847983 0.00002
NM_000370.3(TTPA):c.661C>T (p.Arg221Trp) rs35916840 0.00002
NM_001122955.4(BSCL2):c.455A>G (p.Asn152Ser) rs137852972 0.00002
NM_001358921.2(COQ2):c.287G>A (p.Ser96Asn) rs121918233 0.00002
NM_002529.4(NTRK1):c.287+2dup rs768373757 0.00002
NM_020247.5(COQ8A):c.1651G>A (p.Glu551Lys) rs119468004 0.00002
NM_020312.4(COQ9):c.730C>T (p.Arg244Ter) rs267606751 0.00002
NM_020381.4(PDSS2):c.1145C>T (p.Ser382Leu) rs118203956 0.00002
NM_024577.4(SH3TC2):c.1586G>A (p.Arg529His) rs80338923 0.00002
NM_024577.4(SH3TC2):c.1969G>A (p.Glu657Lys) rs80338925 0.00002
NM_213655.5(WNK1):c.3301C>T (p.Gln1101Ter) rs111033590 0.00002
NM_000081.4(LYST):c.3310C>T (p.Arg1104Ter) rs80338652 0.00001
NM_000153.4(GALC):c.169G>A (p.Gly57Ser) rs11623 0.00001
NM_000166.6(GJB1):c.415G>A (p.Val139Met) rs104894812 0.00001
NM_000288.4(PEX7):c.854A>G (p.His285Arg) rs62653611 0.00001
NM_000370.3(TTPA):c.175C>T (p.Arg59Trp) rs397515522 0.00001
NM_000370.3(TTPA):c.421G>A (p.Glu141Lys) rs397515524 0.00001
NM_000487.6(ARSA):c.1210+1G>A rs80338820 0.00001
NM_000487.6(ARSA):c.769G>C (p.Asp257His) rs80338819 0.00001
NM_000530.8(MPZ):c.487G>C (p.Gly163Arg) rs281865128 0.00001
NM_001122955.4(BSCL2):c.461C>T (p.Ser154Leu) rs137852973 0.00001
NM_001358921.2(COQ2):c.1009C>T (p.Arg337Ter) rs751185256 0.00001
NM_001370298.3(FGD4):c.1234C>T (p.Arg412Ter) rs118203974 0.00001
NM_002047.4(GARS1):c.1660G>A (p.Asp554Asn) rs137852647 0.00001
NM_002047.4(GARS1):c.332C>T (p.Ala111Val) rs370531212 0.00001
NM_004750.5(CRLF1):c.676dup (p.Thr226fs) rs761746361 0.00001
NM_006096.4(NDRG1):c.442C>T (p.Arg148Ter) rs119483085 0.00001
NM_006415.4(SPTLC1):c.431T>A (p.Val144Asp) rs119482083 0.00001
NM_016035.5(COQ4):c.190C>T (p.Pro64Ser) rs766317663 0.00001
NM_016035.5(COQ4):c.421C>T (p.Arg141Ter) rs775607037 0.00001
NM_018972.4(GDAP1):c.347T>G (p.Met116Arg) rs281865060 0.00001
NM_018972.4(GDAP1):c.358C>T (p.Arg120Trp) rs104894078 0.00001
NM_020247.5(COQ8A):c.1136T>A (p.Leu379Ter) rs747150601 0.00001
NM_020247.5(COQ8A):c.1523T>C (p.Phe508Ser) rs1057519343 0.00001
NM_020247.5(COQ8A):c.1541A>G (p.Tyr514Cys) rs119468008 0.00001
NM_020247.5(COQ8A):c.637C>T (p.Arg213Trp) rs119468005 0.00001
NM_020381.4(PDSS2):c.964C>T (p.Gln322Ter) rs118203955 0.00001
NM_024577.4(SH3TC2):c.2829T>G (p.Tyr943Ter) rs80338932 0.00001
NM_181882.3(PRX):c.3208C>T (p.Arg1070Ter) rs104894708 0.00001
NM_182476.3(COQ6):c.1235A>G (p.Tyr412Cys) rs374270071 0.00001
NM_182476.3(COQ6):c.564G>A (p.Trp188Ter) rs1057519349 0.00001
NC_012920.1(MT-ATP6):m.8839G>C rs1556423547
NC_012920.1(MT-ATP6):m.8851T>C rs199476136
NC_012920.1(MT-ATP6):m.8989G>C rs587776444
NC_012920.1(MT-ATP6):m.8993T>C rs199476133
NC_012920.1(MT-ATP6):m.8993T>G rs199476133
NC_012920.1(MT-ATP6):m.9176T>C rs199476135
NC_012920.1(MT-ATP6):m.9176T>G rs199476135
NC_012920.1(MT-ATP6):m.9185T>C rs199476138
NC_012920.1(MT-ATP6):m.9191T>C rs1556423632
NC_012920.1(MT-CO3):m.9478T>C rs587776437
NC_012920.1(MT-CO3):m.9537dup rs267606614
NC_012920.1(MT-ND1):m.1624C>T rs199476144
NC_012920.1(MT-ND1):m.1644G>T rs587776441
NC_012920.1(MT-ND1):m.3460G>A rs199476118
NC_012920.1(MT-ND1):m.3481G>A rs587776433
NC_012920.1(MT-ND1):m.3890G>A rs587776434
NC_012920.1(MT-ND1):m.3928G>C rs587776442
NC_012920.1(MT-ND2):m.4681T>C rs267606889
NC_012920.1(MT-ND3):m.10158T>C rs199476117
NC_012920.1(MT-ND3):m.10191T>C rs267606890
NC_012920.1(MT-ND3):m.10197G>A rs267606891
NC_012920.1(MT-ND3):m.10254G>A rs587776438
NC_012920.1(MT-ND4):m.11777C>A rs28384199
NC_012920.1(MT-ND4):m.11984T>C rs200911567
NC_012920.1(MT-ND5):m.12706T>C (p.Phe124Leu) rs267606893
NC_012920.1(MT-ND5):m.13513G>A rs267606897
NC_012920.1(MT-ND5):m.13514A>G rs587776440
NC_012920.1(MT-ND6):m.14459G>A rs199476105
NC_012920.1(MT-ND6):m.14484T>C rs199476104
NC_012920.1(MT-ND6):m.14487T>C rs199476109
NC_012920.1(MT-TK):m.8344A>G rs118192098
NC_012920.1(MT-TK):m.8363G>A rs118192100
NC_012920.1(MT-TL1):m.3243A>G rs199474657
NC_012920.1(MT-TS2):m.8483_13459del
NC_012920.1(MT-TW):m.5523T>G rs587776435
NC_012920.1(MT-TW):m.5537_5538insT rs199474672
NC_012920.1(MT-TW):m.5559A>G rs1556423008
NM_000081.2(LYST):c.7060_7066delCTATTAG rs80338661
NM_000081.3(LYST):c.9107_9162del (p.Gly3036Glufs)
NM_000081.4(LYST):c.10127A>G (p.Asn3376Ser) rs80338669
NM_000081.4(LYST):c.10395del (p.Gly3466fs) rs80338670
NM_000081.4(LYST):c.11102G>T (p.Cys3701Phe)
NM_000081.4(LYST):c.11173G>A (p.Gly3725Arg)
NM_000081.4(LYST):c.118dup (p.Ala40fs) rs80338642
NM_000081.4(LYST):c.1467del (p.Glu489fs) rs80338644
NM_000081.4(LYST):c.148C>T (p.Arg50Ter) rs80338643
NM_000081.4(LYST):c.1540C>T (p.Arg514Ter) rs80338645
NM_000081.4(LYST):c.1902dup (p.Ala635fs) rs80338646
NM_000081.4(LYST):c.2413del (p.Glu805fs) rs80338647
NM_000081.4(LYST):c.2454del (p.Ala819fs) rs80338648
NM_000081.4(LYST):c.2623del (p.Tyr875fs) rs80338649
NM_000081.4(LYST):c.3073_3074del (p.Asn1025fs) rs80338650
NM_000081.4(LYST):c.3085C>T (p.Gln1029Ter) rs80338651
NM_000081.4(LYST):c.3434dup (p.His1145fs)
NM_000081.4(LYST):c.3622C>T (p.Gln1208Ter)
NM_000081.4(LYST):c.3944dup (p.Val1316fs)
NM_000081.4(LYST):c.4052C>G (p.Ser1351Ter) rs80338654
NM_000081.4(LYST):c.4274del (p.Leu1425fs) rs80338656
NM_000081.4(LYST):c.4361C>A (p.Ala1454Asp) rs80338655
NM_000081.4(LYST):c.4688G>A (p.Arg1563His) rs80338657
NM_000081.4(LYST):c.5061T>A (p.Tyr1687Ter) rs80338658
NM_000081.4(LYST):c.5317del (p.Arg1773fs) rs80338659
NM_000081.4(LYST):c.5506C>T (p.Arg1836Ter)
NM_000081.4(LYST):c.5541_5542del (p.Arg1848fs)
NM_000081.4(LYST):c.5996T>A (p.Val1999Asp) rs28942077
NM_000081.4(LYST):c.6078C>A (p.Tyr2026Ter) rs80338660
NM_000081.4(LYST):c.7555del (p.Tyr2519fs) rs80338662
NM_000081.4(LYST):c.772T>C (p.Cys258Arg)
NM_000081.4(LYST):c.7982C>G (p.Ser2661Ter)
NM_000081.4(LYST):c.8281A>T (p.Arg2761Ter)
NM_000081.4(LYST):c.8428G>A (p.Glu2810Lys) rs80338663
NM_000081.4(LYST):c.8583G>A (p.Trp2861Ter) rs80338664
NM_000081.4(LYST):c.9228_9229insTTCTTTCAGT (p.Lys3077delinsPhePheGlnTer) rs80338666
NM_000081.4(LYST):c.925C>T (p.Arg309Ter)
NM_000081.4(LYST):c.9590del (p.Tyr3197fs) rs80338667
NM_000081.4(LYST):c.9827_9832del (p.Asn3276_Thr3277del)
NM_000081.4(LYST):c.9893del (p.Phe3298fs) rs80338668
NM_000143.4(FH):c.1431_1433dup (p.Lys477dup) rs367543046
NM_000153.4(GALC):c.1472del (p.Lys491fs) rs771489305
NM_000153.4(GALC):c.560A>T (p.Asp187Val) rs997021099
NM_000153.4(GALC):c.953C>T (p.Pro318Leu)
NM_000166.6(GJB1):c.123G>C (p.Glu41Asp) rs116840816
NM_000166.6(GJB1):c.145T>C (p.Ser49Pro) rs116840817
NM_000166.6(GJB1):c.164C>T (p.Thr55Ile) rs104894824
NM_000166.6(GJB1):c.187G>A (p.Val63Ile) rs116840818
NM_000166.6(GJB1):c.223C>T (p.Arg75Trp) rs116840819
NM_000166.6(GJB1):c.225del (p.Leu76fs) rs116840820
NM_000166.6(GJB1):c.407T>C (p.Val136Ala) rs104894826
NM_000166.6(GJB1):c.43C>T (p.Arg15Trp) rs116840815
NM_000166.6(GJB1):c.536G>A (p.Cys179Tyr) rs116840822
NM_000166.6(GJB1):c.556G>A (p.Glu186Lys) rs116840821
NM_000166.6(GJB1):c.614A>G (p.Asn205Ser) rs104894822
NM_000217.3(KCNA1):c.676A>G (p.Thr226Ala) rs104894354
NM_000217.3(KCNA1):c.677C>G (p.Thr226Arg) rs28933383
NM_000217.3(KCNA1):c.677C>T (p.Thr226Met) rs28933383
NM_000287.4(PEX6):c.2578C>T (p.Arg860Trp) rs61753230
NM_000288.4(PEX7):c.13_19dup (p.Gly7fs) rs62636519
NM_000288.4(PEX7):c.40A>C (p.Thr14Pro) rs61753233
NM_000288.4(PEX7):c.45_52dup (p.His18fs) rs63535662
NM_000304.4(PMP22):c.117G>C (p.Trp39Cys) rs797044846
NM_000304.4(PMP22):c.199G>C (p.Ala67Pro) rs104894623
NM_000304.4(PMP22):c.281dup (p.Arg95fs) rs80338763
NM_000304.4(PMP22):c.289del (p.Tyr97fs) rs1597607713
NM_000304.4(PMP22):c.469C>T (p.Arg157Trp) rs28936682
NM_000304.4(PMP22):c.47T>C (p.Leu16Pro) rs104894617
NM_000304.4(PMP22):c.65C>T (p.Ser22Phe) rs104894625
NM_000304.4(PMP22):c.82T>C (p.Trp28Arg) rs104894626
NM_000370.3(TTPA):c.191A>G (p.Asp64Gly) rs397515523
NM_000370.3(TTPA):c.205-1G>T rs886040963
NM_000370.3(TTPA):c.303T>G (p.His101Gln) rs121917849
NM_000370.3(TTPA):c.487del (p.Trp163fs) rs397515378
NM_000370.3(TTPA):c.548T>C (p.Leu183Pro) rs397515525
NM_000370.3(TTPA):c.552+2T>A rs886040964
NM_000370.3(TTPA):c.736G>C (p.Gly246Arg) rs397515526
NM_000370.3(TTPA):c.744del (p.Glu249fs) rs397515377
NM_000399.5(EGR2):c.1075C>T (p.Arg359Trp) rs104894161
NM_000399.5(EGR2):c.1076G>A (p.Arg359Gln) rs281865136
NM_000399.5(EGR2):c.1142G>A (p.Arg381His) rs281865137
NM_000399.5(EGR2):c.1146T>G (p.Ser382Arg) rs281865138
NM_000399.5(EGR2):c.1147G>T (p.Asp383Tyr) rs104894160
NM_000399.5(EGR2):c.1160C>A (p.Thr387Asn) rs281865139
NM_000399.5(EGR2):c.1225C>T (p.Arg409Trp) rs104894159
NM_000399.5(EGR2):c.803T>A (p.Ile268Asn) rs104894158
NM_000466.3(PEX1):c.2097dup (p.Ile700fs) rs61750415
NM_000487.6(ARSA):c.1232C>T (p.Thr411Ile) rs74315481
NM_000487.6(ARSA):c.1408_1418del (p.Ala470fs) rs80338823
NM_000487.6(ARSA):c.302G>A (p.Gly101Asp) rs74315455
NM_000487.6(ARSA):c.739G>A (p.Gly247Arg) rs74315471
NM_000530.8(MPZ):c.131C>T (p.Ser44Phe) rs121913598
NM_000530.8(MPZ):c.164G>T (p.Ser55Ile) rs281865133
NM_000530.8(MPZ):c.175T>A (p.Ser59Thr) rs281865122
NM_000530.8(MPZ):c.181G>A (p.Asp61Asn) rs797044845
NM_000530.8(MPZ):c.224A>T (p.Asp75Val) rs121913597
NM_000530.8(MPZ):c.241C>T (p.His81Tyr) rs281865123
NM_000530.8(MPZ):c.242A>G (p.His81Arg) rs121913594
NM_000530.8(MPZ):c.244T>C (p.Tyr82His) rs281865124
NM_000530.8(MPZ):c.266T>C (p.Ile89Thr) rs267607244
NM_000530.8(MPZ):c.306del (p.Asp104fs) rs281865125
NM_000530.8(MPZ):c.347A>G (p.Asn116Ser) rs281865130
NM_000530.8(MPZ):c.371C>T (p.Thr124Met) rs121913595
NM_000530.8(MPZ):c.389A>G (p.Lys130Arg) rs281865127
NM_000530.8(MPZ):c.393C>A (p.Asn131Lys) rs121913599
NM_000530.8(MPZ):c.487G>A (p.Gly163Arg) rs281865128
NM_000530.8(MPZ):c.499G>A (p.Gly167Arg) rs121913586
NM_000530.8(MPZ):c.588dup (p.Met197fs) rs281865129
NM_000530.8(MPZ):c.645+1G>T rs281865131
NM_000530.8(MPZ):c.649C>T (p.Pro217Ser) rs281865132
NM_000530.8(MPZ):c.670G>T (p.Asp224Tyr) rs267607247
NM_000530.8(MPZ):c.89T>C (p.Ile30Thr) rs281865121
NM_000784.4(CYP27A1):c.355del (p.Arg119fs) rs587778793
NM_001097642.2(GJB1):c.572_580dup(p.Phe193_Met194insThrValPhe) rs116840823
NM_001113491.2(SEPTIN9):c.316C>T (p.Arg106Trp) rs80338761
NM_001113491.2(SEPTIN9):c.332C>T (p.Ser111Phe) rs80338762
NM_001113491.2(SEPTIN9):c.76+12996G>C rs80338760
NM_001122955.4(BSCL2):c.461C>G (p.Ser154Trp) rs137852973
NM_001122955.4(BSCL2):c.479G>A (p.Arg160His)
NM_001136472.2(LITAF):c.332C>G (p.Ala111Gly) rs281865134
NM_001136472.2(LITAF):c.334G>A (p.Gly112Ser) rs104894519
NM_001136472.2(LITAF):c.344C>A (p.Thr115Asn) rs104894520
NM_001136472.2(LITAF):c.346T>G (p.Trp116Gly) rs104894521
NM_001136472.2(LITAF):c.385G>A (p.Ala129Thr) rs797044847
NM_001136472.2(LITAF):c.403C>A (p.Pro135Thr) rs281865135
NM_001136472.2(LITAF):c.403C>T (p.Pro135Ser) rs281865135
NM_001136472.2(LITAF):c.404C>G (p.Pro135Arg) rs797044848
NM_001349253.2(SCN11A):c.2432T>C (p.Leu811Pro) rs483352920
NM_001349253.2(SCN11A):c.3904C>T (p.Leu1302Phe) rs1553633131
NM_001358263.1(HK1):c.-290G>C rs797044964
NM_001358921.2(COQ2):c.1047del (p.Asn351fs) rs750710187
NM_001358921.2(COQ2):c.395T>G (p.Met132Arg) rs1057519348
NM_001358921.2(COQ2):c.740A>G (p.Tyr247Cys) rs121918230
NM_001358921.2(COQ2):c.755C>T (p.Ala252Val) rs762616589
NM_001370298.3(FGD4):c.1304T>C (p.Met435Thr) rs63749871
NM_001370298.3(FGD4):c.1304T>G (p.Met435Arg) rs63749871
NM_001370298.3(FGD4):c.1736G>A (p.Arg579His) rs281865063
NM_001370298.3(FGD4):c.2109G>H (p.Met703Ile) rs281865064
NM_001370298.3(FGD4):c.2173-2A>G rs281865065
NM_001370658.1(BTD):c.38_44delinsTCC (p.Cys13fs) rs80338684
NM_001386140.1(MTTP):c.1304T>A (p.Leu435His) rs1560621495
NM_001386140.1(MTTP):c.1769G>T (p.Ser590Ile) rs199422222
NM_001386140.1(MTTP):c.2237G>A (p.Gly746Glu) rs767833468
NM_001386140.1(MTTP):c.2338A>T (p.Asn780Tyr) rs199422221
NM_002047.4(GARS1):c.1000A>T (p.Ile334Phe) rs1554338260
NM_002047.4(GARS1):c.1415A>G (p.His472Arg) rs1060502838
NM_002047.4(GARS1):c.1738G>C (p.Gly580Arg) rs137852646
NM_002047.4(GARS1):c.374A>G (p.Glu125Gly) rs137852645
NM_002047.4(GARS1):c.548T>C (p.Leu183Pro) rs137852644
NM_002047.4(GARS1):c.598G>T (p.Asp200Tyr) rs1554337369
NM_002047.4(GARS1):c.880G>C (p.Gly294Arg) rs137852643
NM_002047.4(GARS1):c.893C>T (p.Pro298Leu) rs137852648
NM_002529.4(NTRK1):c.1633-1G>T rs1571699664
NM_002529.4(NTRK1):c.1660del (p.Arg554fs) rs80356675
NM_002529.4(NTRK1):c.1860_1861insT (p.Pro621fs) rs80356676
NM_002529.4(NTRK1):c.2020G>T (p.Asp674Tyr) rs80356677
NM_002529.4(NTRK1):c.25C>T (p.Gln9Ter) rs80356673
NM_002764.4(PRPS1):c.129A>C (p.Glu43Asp) rs80338731
NM_002764.4(PRPS1):c.344T>C (p.Met115Thr) rs80338732
NM_004750.5(CRLF1):c.1121T>G (p.Leu374Arg) rs104894668
NM_004750.5(CRLF1):c.226T>G (p.Trp76Gly) rs137853143
NM_004750.5(CRLF1):c.713dup (p.Pro239fs) rs768727082
NM_006158.5(NEFL):c.1001A>C (p.Gln334Pro) rs281865140
NM_006158.5(NEFL):c.23C>G (p.Pro8Arg) rs61491953
NM_006158.5(NEFL):c.293A>G (p.Asn98Ser) rs58982919
NM_006158.5(NEFL):c.446C>T (p.Ala149Val) rs59101996
NM_006158.5(NEFL):c.64C>A (p.Pro22Thr) rs28928910
NM_006158.5(NEFL):c.64C>T (p.Pro22Ser) rs28928910
NM_006158.5(NEFL):c.65C>G (p.Pro22Arg) rs267607538
NM_006415.4(SPTLC1):c.1160G>C (p.Gly387Ala) rs119482084
NM_006415.4(SPTLC1):c.398G>A (p.Cys133Tyr) rs119482081
NM_006415.4(SPTLC1):c.399T>G (p.Cys133Trp) rs119482082
NM_014317.5(PDSS1):c.1108A>C (p.Ser370Arg) rs1057519354
NM_014317.5(PDSS1):c.661_662insT (p.Arg221fs) rs1057519353
NM_014317.5(PDSS1):c.924T>G (p.Asp308Glu) rs119463988
NM_015046.7(SETX):c.193G>A (p.Glu65Lys) rs1554825315
NM_016035.5(COQ4):c.155T>C (p.Leu52Ser) rs786204770
NM_016035.5(COQ4):c.433C>G (p.Arg145Gly) rs774395996
NM_016035.5(COQ4):c.518CCA[1] (p.Thr174del) rs786204771
NM_016156.6(MTMR2):c.826G>T (p.Glu276Ter) rs121434403
NM_018972.4(GDAP1):c.368A>G (p.His123Arg) rs397515442
NM_018972.4(GDAP1):c.469A>C (p.Thr157Pro) rs104894079
NM_020247.5(COQ8A):c.1081-1_1082dup rs1057519344
NM_020247.5(COQ8A):c.1398+2T>C rs606231138
NM_020247.5(COQ8A):c.1747ACC[1] (p.Thr584del) rs387906299
NM_020247.5(COQ8A):c.1813dup (p.Glu605fs) rs387906298
NM_020247.5(COQ8A):c.1844G>A (p.Gly615Asp) rs752130338
NM_020247.5(COQ8A):c.1844dup (p.Ser616fs) rs764847439
NM_020247.5(COQ8A):c.815G>A (p.Gly272Asp) rs119468006
NM_020247.5(COQ8A):c.815G>T (p.Gly272Val) rs119468006
NM_021830.5(TWNK):c.955A>G (p.Lys319Glu) rs80356543
NM_024577.4(SH3TC2):c.1747_1748del (p.Arg583fs) rs80338924
NM_024577.4(SH3TC2):c.2491_2492del (p.Leu832fs) rs80338929
NM_024577.4(SH3TC2):c.28del (p.Glu10fs) rs80338918
NM_024577.4(SH3TC2):c.3341del (p.Pro1114fs) rs80338936
NM_024577.4(SH3TC2):c.3601C>T (p.Gln1201Ter) rs80338937
NM_024577.4(SH3TC2):c.530-2A>G rs80338920
NM_181882.3(PRX):c.1951G>A (p.Asp651Asn) rs3814290
NM_181882.3(PRX):c.2098del (p.Ala700fs) rs281865062
NM_181882.3(PRX):c.247del (p.Leu83fs) rs281865061
NM_182476.3(COQ6):c.1058C>A (p.Ala353Asp) rs397514479
NM_182476.3(COQ6):c.1341G>A (p.Trp447Ter) rs1057519351
NM_182476.3(COQ6):c.1383del (p.Ile462fs) rs1057519352
NM_182476.3(COQ6):c.484C>T (p.Arg162Ter) rs189840848
NM_182476.3(COQ6):c.763G>A (p.Gly255Arg) rs1057519350
NM_213655.5(WNK1):c.2952del (p.Glu984fs) rs137852734
NM_213655.5(WNK1):c.3276dup (p.Ser1093fs) rs137852735
NM_213655.5(WNK1):c.3492dup (p.Asp1165Ter) rs1951913764

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.