ClinVar Miner

List of variants studied for Werdnig-Hoffmann disease

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 320
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HGVS dbSNP
NC_000005.10:g.70936291_70945268del
NC_000008.10:g.(?_144990325)_(145700664_?)dup
NC_000011.10:g.(68906754_68906786)_(68925257_68925289)del
NC_000020.10:g.(?_741650)_(746438_?)del
NC_000020.10:g.(?_741650)_(746438_?)dup
NC_000023.10:g.(?_66863078)_(66905988_?)dup
NC_000023.10:g.(?_66905852)_(66905968_?)del
NM_000044.4(AR):c.172_174CAG(10_36) (p.Gln69_Gln80del) rs3032358
NM_000044.4(AR):c.172_174CAG(36_37) (p.Gln80_Glu81insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln) rs3032358
NM_000044.4(AR):c.172_174CAG(38_68) (p.Gln80_Glu81insGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGlnGln) rs3032358
NM_000044.4(AR):c.172_174CAG(7_34) (p.Gln66_Gln80del) rs3032358
NM_000044.6(AR):c.1310_1311CT[2] (p.Phe439fs)
NM_000044.6(AR):c.1370_1372GCG[14] (p.Gly471_Gly473del) rs746853821
NM_000044.6(AR):c.1370_1372GCG[15] (p.Gly472_Gly473del) rs746853821
NM_000044.6(AR):c.1370_1372GCG[16] (p.Gly473del) rs746853821
NM_000044.6(AR):c.1370_1372GCG[18] (p.Gly473dup) rs746853821
NM_000044.6(AR):c.1440dup (p.Tyr481fs) rs1555970004
NM_000044.6(AR):c.1442A>G (p.Tyr481Cys) rs1555970006
NM_000044.6(AR):c.1451_1454del (p.Thr484fs) rs1569265331
NM_000044.6(AR):c.1536G>A (p.Val512=) rs150545747
NM_000044.6(AR):c.1614dup (p.Arg539fs) rs1569265470
NM_000044.6(AR):c.1705G>T (p.Gly569Trp) rs1555982864
NM_000044.6(AR):c.171_173GCA[15] (p.Gln73_Gln80del) rs3032358
NM_000044.6(AR):c.171_173GCA[18] (p.Gln76_Gln80del) rs3032358
NM_000044.6(AR):c.171_173GCA[19] (p.Gln77_Gln80del) rs3032358
NM_000044.6(AR):c.171_173GCA[20] (p.Gln78_Gln80del) rs3032358
NM_000044.6(AR):c.171_173GCA[24] (p.Gln80dup) rs3032358
NM_000044.6(AR):c.171_173GCA[28] (p.Gln76_Gln80dup) rs3032358
NM_000044.6(AR):c.171_173GCA[31] (p.Gln73_Gln80dup) rs3032358
NM_000044.6(AR):c.171_173GCA[32] (p.Gln72_Gln80dup) rs3032358
NM_000044.6(AR):c.171_173GCA[36] (p.Gln68_Gln80dup)
NM_000044.6(AR):c.1722_1723TC[1] (p.Leu575fs)
NM_000044.6(AR):c.172_173insTGCAGCAGC (p.Gln58_Gln59insLeuGlnGln) rs1206863775
NM_000044.6(AR):c.1736G>C (p.Ser579Thr) rs1555982879
NM_000044.6(AR):c.173A>T (p.Gln58Leu) rs200185441
NM_000044.6(AR):c.174_175insTAG (p.Gln59Ter)
NM_000044.6(AR):c.1789G>A (p.Ala597Thr) rs137852569
NM_000044.6(AR):c.1805G>A (p.Cys602Tyr) rs1555990470
NM_000044.6(AR):c.1823G>A (p.Arg608Gln) rs137852573
NM_000044.6(AR):c.1844G>C (p.Cys615Ser)
NM_000044.6(AR):c.1897A>T (p.Lys633Ter)
NM_000044.6(AR):c.195_199delinsTT (p.Gln65_Gln67delinsHisTer) rs1569263557
NM_000044.6(AR):c.2021T>C (p.Phe674Ser)
NM_000044.6(AR):c.2053G>A (p.Val685Ile) rs1555995822
NM_000044.6(AR):c.2068C>A (p.His690Asn)
NM_000044.6(AR):c.2121A>C (p.Glu707Asp) rs1555995856
NM_000044.6(AR):c.2176T>C (p.Phe726Leu) rs1555996810
NM_000044.6(AR):c.2239G>A (p.Val747Met)
NM_000044.6(AR):c.2257C>T (p.Arg753Ter) rs886039558
NM_000044.6(AR):c.2296G>A (p.Ala766Thr) rs1555996863
NM_000044.6(AR):c.2318+1G>C rs1569314508
NM_000044.6(AR):c.2359C>T (p.Arg787Ter) rs1555997580
NM_000044.6(AR):c.2391G>A (p.Trp797Ter) rs137852565
NM_000044.6(AR):c.2437C>T (p.Leu813Phe) rs1555997625
NM_000044.6(AR):c.2495G>A (p.Arg832Gln) rs1386577803
NM_000044.6(AR):c.2517C>T (p.Leu839=) rs6153
NM_000044.6(AR):c.2521C>T (p.Arg841Cys) rs137852577
NM_000044.6(AR):c.2522G>A (p.Arg841His) rs9332969
NM_000044.6(AR):c.2528T>C (p.Ile843Thr)
NM_000044.6(AR):c.2546dup (p.Asn849fs)
NM_000044.6(AR):c.2567G>A (p.Arg856His) rs9332971
NM_000044.6(AR):c.2599G>A (p.Val867Met) rs137852564
NM_000044.6(AR):c.2612C>T (p.Ala871Val) rs143040492
NM_000044.6(AR):c.2668G>A (p.Val890Met) rs886041133
NM_000044.6(AR):c.2678C>A (p.Pro893Gln)
NM_000044.6(AR):c.2678C>T (p.Pro893Leu)
NM_000044.6(AR):c.2696T>C (p.Ile899Thr) rs1555998105
NM_000044.6(AR):c.2698A>T (p.Ile900Phe) rs1555998108
NM_000044.6(AR):c.271C>T (p.Gln91Ter)
NM_000044.6(AR):c.2752del (p.His918fs)
NM_000044.6(AR):c.292C>T (p.Gln98Ter) rs1555969553
NM_000044.6(AR):c.636G>A (p.Arg212=) rs150226204
NM_000044.6(AR):c.749dup (p.Val251fs) rs1555969684
NM_000044.6(AR):c.756_765del (p.Glu252fs)
NM_000044.6(AR):c.830_845dup (p.Pro283fs) rs1569264288
NM_000044.6(AR):c.949A>G (p.Thr317Ala) rs1555969722
NM_000344.3(SMN1):c.131A>T (p.Asp44Val) rs104893931
NM_000344.3(SMN1):c.278A>C (p.Lys93Thr)
NM_000344.3(SMN1):c.283G>C (p.Gly95Arg) rs104893927
NM_000344.3(SMN1):c.305G>A (p.Trp102Ter) rs77804083
NM_000344.3(SMN1):c.332C>G (p.Ala111Gly) rs104893935
NM_000344.3(SMN1):c.346A>T (p.Ile116Phe) rs104893933
NM_000344.3(SMN1):c.388T>C (p.Tyr130His) rs397514518
NM_000344.3(SMN1):c.389A>G (p.Tyr130Cys) rs397514517
NM_000344.3(SMN1):c.406C>G (p.Gln136Glu) rs104893934
NM_000344.3(SMN1):c.48_55dup (p.Val19fs) rs1561498701
NM_000344.3(SMN1):c.490C>A (p.Gln164Lys) rs1561499713
NM_000344.3(SMN1):c.5C>G (p.Ala2Gly) rs1554066397
NM_000344.3(SMN1):c.662C>T (p.Pro221Leu) rs1336155324
NM_000344.3(SMN1):c.724-2A>G rs1561500842
NM_000344.3(SMN1):c.770_780dup (p.Gly261fs) rs1561500847
NM_000344.3(SMN1):c.784A>G (p.Ser262Gly) rs104893932
NM_000344.3(SMN1):c.785G>T (p.Ser262Ile) rs1554066659
NM_000344.3(SMN1):c.815A>G (p.Tyr272Cys) rs104893922
NM_000344.3(SMN1):c.821C>T (p.Thr274Ile) rs1554066666
NM_000344.3(SMN1):c.835-2A>G rs141760116
NM_000344.3(SMN1):c.835-3C>T rs772466166
NM_000344.3(SMN1):c.836G>T (p.Gly279Val) rs76163360
NM_000344.3(SMN1):c.840C>T (p.Phe280=) rs1164325688
NM_000344.3(SMN1):c.88G>A (p.Asp30Asn) rs104893930
NM_001253816.1(SLC52A2):c.1016T>C (p.Leu339Pro) rs148234606
NM_001253816.1(SLC52A2):c.935T>C (p.Leu312Pro) rs754320812
NM_001363122.2(SLC52A2):c.131-281_131-279del rs782498327
NM_001363122.2(SLC52A2):c.131-72del rs1554854044
NM_002180.2(IGHMBP2):c.1107C>G (p.Phe369Leu) rs137852670
NM_002180.2(IGHMBP2):c.121C>T (p.Gln41Ter) rs137852668
NM_002180.2(IGHMBP2):c.1540G>A (p.Glu514Lys) rs137852665
NM_002180.2(IGHMBP2):c.1738G>A (p.Val580Ile) rs137852667
NM_002180.2(IGHMBP2):c.2611+1G>T rs786205090
NM_002180.2(IGHMBP2):c.638A>G (p.His213Arg) rs137852666
NM_002180.2(IGHMBP2):c.675del (p.Glu226fs) rs786205089
NM_002180.2(IGHMBP2):c.707T>G (p.Leu236Ter) rs137852669
NM_017411.3(SMN2):c.859G>C (p.Gly287Arg) rs121909192
NM_022874.2(SMN1):c.397_398AG[1] (p.Glu134fs)
NM_024531.5(SLC52A2):c.-110-1G>A rs1554853682
NM_024531.5(SLC52A2):c.1001+6C>T rs139398461
NM_024531.5(SLC52A2):c.1024C>T (p.Leu342Phe)
NM_024531.5(SLC52A2):c.1039G>A (p.Val347Met) rs145502954
NM_024531.5(SLC52A2):c.1064C>A (p.Ala355Glu)
NM_024531.5(SLC52A2):c.1066C>T (p.Leu356=) rs138107380
NM_024531.5(SLC52A2):c.1076_1079del (p.Leu359fs)
NM_024531.5(SLC52A2):c.1088C>T (p.Pro363Leu) rs797045202
NM_024531.5(SLC52A2):c.1089G>A (p.Pro363=) rs146292053
NM_024531.5(SLC52A2):c.1094del (p.Leu365fs) rs1564657463
NM_024531.5(SLC52A2):c.1106C>T (p.Ser369Leu) rs138160033
NM_024531.5(SLC52A2):c.1113G>A (p.Gly371=) rs149575570
NM_024531.5(SLC52A2):c.1118T>G (p.Val373Gly) rs200245353
NM_024531.5(SLC52A2):c.1122C>T (p.Leu374=) rs144290224
NM_024531.5(SLC52A2):c.1152C>T (p.Gly384=) rs782168938
NM_024531.5(SLC52A2):c.1163A>G (p.Tyr388Cys)
NM_024531.5(SLC52A2):c.116A>G (p.Lys39Arg)
NM_024531.5(SLC52A2):c.116_130+83del rs1564653965
NM_024531.5(SLC52A2):c.1178C>T (p.Ala393Val) rs782396304
NM_024531.5(SLC52A2):c.1181G>A (p.Ser394Asn) rs1564657964
NM_024531.5(SLC52A2):c.1204C>T (p.Arg402Trp)
NM_024531.5(SLC52A2):c.1209G>A (p.Pro403=) rs374612342
NM_024531.5(SLC52A2):c.1227C>T (p.Gly409=)
NM_024531.5(SLC52A2):c.1228G>A (p.Val410Met) rs782298557
NM_024531.5(SLC52A2):c.1240G>A (p.Val414Met) rs1554854625
NM_024531.5(SLC52A2):c.1255G>A (p.Gly419Ser) rs397514658
NM_024531.5(SLC52A2):c.1258G>A (p.Ala420Thr) rs368924997
NM_024531.5(SLC52A2):c.1259C>T (p.Ala420Val) rs1554854637
NM_024531.5(SLC52A2):c.1267A>G (p.Met423Val) rs560659799
NM_024531.5(SLC52A2):c.126A>C (p.Pro42=) rs527404024
NM_024531.5(SLC52A2):c.1277C>T (p.Pro426Leu) rs201673476
NM_024531.5(SLC52A2):c.1280C>T (p.Thr427Ile)
NM_024531.5(SLC52A2):c.1289A>G (p.Tyr430Cys) rs781873022
NM_024531.5(SLC52A2):c.1307G>A (p.Arg436Lys)
NM_024531.5(SLC52A2):c.131-1G>C
NM_024531.5(SLC52A2):c.1323C>A (p.Asp441Glu) rs1554854664
NM_024531.5(SLC52A2):c.13A>T (p.Thr5Ser)
NM_024531.5(SLC52A2):c.143C>T (p.Pro48Leu) rs1554853840
NM_024531.5(SLC52A2):c.144C>G (p.Pro48=) rs1554853841
NM_024531.5(SLC52A2):c.155C>T (p.Ser52Phe) rs397514657
NM_024531.5(SLC52A2):c.217C>T (p.Pro73Ser)
NM_024531.5(SLC52A2):c.228C>T (p.Asp76=) rs111588500
NM_024531.5(SLC52A2):c.280C>G (p.Leu94Val)
NM_024531.5(SLC52A2):c.297G>C (p.Trp99Cys) rs782591841
NM_024531.5(SLC52A2):c.302A>G (p.His101Arg)
NM_024531.5(SLC52A2):c.319G>A (p.Gly107Arg) rs1330914046
NM_024531.5(SLC52A2):c.353C>A (p.Ala118Asp) rs117500243
NM_024531.5(SLC52A2):c.359T>C (p.Val120Ala) rs74445699
NM_024531.5(SLC52A2):c.363G>C (p.Leu121=) rs1554853933
NM_024531.5(SLC52A2):c.368T>C (p.Leu123Pro) rs397514538
NM_024531.5(SLC52A2):c.383C>T (p.Ser128Leu) rs374071862
NM_024531.5(SLC52A2):c.397C>A (p.Leu133Met)
NM_024531.5(SLC52A2):c.401C>T (p.Pro134Leu)
NM_024531.5(SLC52A2):c.415C>T (p.Leu139=) rs1554853955
NM_024531.5(SLC52A2):c.424C>T (p.Arg142Cys)
NM_024531.5(SLC52A2):c.425G>A (p.Arg142His) rs560681538
NM_024531.5(SLC52A2):c.478G>A (p.Val160Met) rs141953803
NM_024531.5(SLC52A2):c.487C>T (p.Leu163=) rs781887989
NM_024531.5(SLC52A2):c.505C>T (p.Arg169Cys) rs782345472
NM_024531.5(SLC52A2):c.511G>A (p.Glu171Lys)
NM_024531.5(SLC52A2):c.535G>A (p.Gly179Ser) rs151081625
NM_024531.5(SLC52A2):c.541C>T (p.Pro181Ser)
NM_024531.5(SLC52A2):c.555C>T (p.Leu185=) rs74370046
NM_024531.5(SLC52A2):c.581G>A (p.Ser194Asn)
NM_024531.5(SLC52A2):c.602C>A (p.Thr201Asn)
NM_024531.5(SLC52A2):c.605C>T (p.Ala202Val) rs1166880307
NM_024531.5(SLC52A2):c.606C>T (p.Ala202=) rs187632310
NM_024531.5(SLC52A2):c.616G>A (p.Ala206Thr)
NM_024531.5(SLC52A2):c.63G>T (p.Met21Ile) rs764635442
NM_024531.5(SLC52A2):c.643C>T (p.Leu215=) rs147954962
NM_024531.5(SLC52A2):c.669T>C (p.Ser223=) rs1554854127
NM_024531.5(SLC52A2):c.679G>A (p.Gly227Arg)
NM_024531.5(SLC52A2):c.68C>A (p.Ser23Tyr) rs1564653909
NM_024531.5(SLC52A2):c.700C>T (p.Gln234Ter) rs797045200
NM_024531.5(SLC52A2):c.709G>C (p.Ala237Pro)
NM_024531.5(SLC52A2):c.751C>T (p.Gln251Ter)
NM_024531.5(SLC52A2):c.806A>G (p.Tyr269Cys) rs372057075
NM_024531.5(SLC52A2):c.808C>T (p.Gln270Ter) rs375088539
NM_024531.5(SLC52A2):c.824G>A (p.Arg275His) rs144912258
NM_024531.5(SLC52A2):c.824G>T (p.Arg275Leu) rs144912258
NM_024531.5(SLC52A2):c.835C>T (p.Leu279=) rs782298419
NM_024531.5(SLC52A2):c.83A>G (p.Asn28Ser)
NM_024531.5(SLC52A2):c.84T>C (p.Asn28=) rs200102613
NM_024531.5(SLC52A2):c.851C>A (p.Ala284Asp) rs398123067
NM_024531.5(SLC52A2):c.853G>A (p.Ala285Thr)
NM_024531.5(SLC52A2):c.863C>T (p.Ala288Val) rs764545993
NM_024531.5(SLC52A2):c.864G>A (p.Ala288=) rs782702240
NM_024531.5(SLC52A2):c.865C>T (p.Leu289=) rs797045201
NM_024531.5(SLC52A2):c.888C>T (p.Ala296=) rs375399467
NM_024531.5(SLC52A2):c.889G>T (p.Val297Leu)
NM_024531.5(SLC52A2):c.897C>G (p.Ser299Arg)
NM_024531.5(SLC52A2):c.914A>G (p.Tyr305Cys) rs398123068
NM_024531.5(SLC52A2):c.916G>A (p.Gly306Arg) rs398124641
NM_024531.5(SLC52A2):c.920G>A (p.Arg307His)
NM_024531.5(SLC52A2):c.926C>T (p.Ala309Val) rs1554854307
NM_024531.5(SLC52A2):c.92G>C (p.Trp31Ser) rs797045199
NM_024531.5(SLC52A2):c.948G>A (p.Leu316=)
NM_024531.5(SLC52A2):c.951C>T (p.Gly317=) rs543461928
NM_033409.3(SLC52A3):c.568-16_568-15insATTGACCTG rs3833341
NM_033409.3:c.1128-1129_insT
NM_033409.4(SLC52A3):c.-52+394T>C rs750886042
NM_033409.4(SLC52A3):c.1047G>A (p.Ser349=) rs147369439
NM_033409.4(SLC52A3):c.1048T>A (p.Leu350Met) rs76947760
NM_033409.4(SLC52A3):c.106G>A (p.Glu36Lys) rs267606686
NM_033409.4(SLC52A3):c.1095C>T (p.Val365=) rs776667122
NM_033409.4(SLC52A3):c.1102G>A (p.Val368Met)
NM_033409.4(SLC52A3):c.1149G>A (p.Met383Ile) rs763995965
NM_033409.4(SLC52A3):c.1154C>T (p.Pro385Leu) rs1568717900
NM_033409.4(SLC52A3):c.1160C>T (p.Pro387Leu)
NM_033409.4(SLC52A3):c.1198-2A>C rs754753126
NM_033409.4(SLC52A3):c.1201G>A (p.Ala401Thr)
NM_033409.4(SLC52A3):c.1238T>C (p.Val413Ala) rs267606687
NM_033409.4(SLC52A3):c.1255G>A (p.Val419Met) rs797045198
NM_033409.4(SLC52A3):c.1270C>T (p.Leu424Phe) rs369230517
NM_033409.4(SLC52A3):c.1278C>T (p.Arg426=) rs139137879
NM_033409.4(SLC52A3):c.1293G>A (p.Trp431Ter) rs1060499531
NM_033409.4(SLC52A3):c.1296C>A (p.Cys432Ter) rs758570021
NM_033409.4(SLC52A3):c.1311G>C (p.Gln437His) rs1555783468
NM_033409.4(SLC52A3):c.1316G>A (p.Gly439Asp) rs1555783467
NM_033409.4(SLC52A3):c.1325_1326del (p.Leu442fs) rs794728004
NM_033409.4(SLC52A3):c.1326C>A (p.Leu442=)
NM_033409.4(SLC52A3):c.1327_1338del (p.Gly443_Leu446del)
NM_033409.4(SLC52A3):c.1334T>C (p.Leu445Pro)
NM_033409.4(SLC52A3):c.134C>T (p.Thr45Met) rs776065357
NM_033409.4(SLC52A3):c.135G>A (p.Thr45=)
NM_033409.4(SLC52A3):c.1363C>T (p.Arg455Trp) rs939576852
NM_033409.4(SLC52A3):c.1371C>G (p.Phe457Leu) rs145431028
NM_033409.4(SLC52A3):c.1373C>A (p.Ser458Ter)
NM_033409.4(SLC52A3):c.1374G>T (p.Ser458=) rs758484328
NM_033409.4(SLC52A3):c.1381G>T (p.Asp461Tyr) rs140360713
NM_033409.4(SLC52A3):c.1403_1404insTGCCTTCTGCAATCTGCACTGTCC (p.Phe462_Ala469dup)
NM_033409.4(SLC52A3):c.140T>C (p.Val47Ala) rs1555784013
NM_033409.4(SLC52A3):c.160G>A (p.Gly54Arg) rs797045191
NM_033409.4(SLC52A3):c.173T>A (p.Val58Asp) rs797045192
NM_033409.4(SLC52A3):c.194G>A (p.Arg65Gln) rs144337813
NM_033409.4(SLC52A3):c.203G>C (p.Cys68Ser) rs149622425
NM_033409.4(SLC52A3):c.210C>T (p.Ser70=) rs1455468261
NM_033409.4(SLC52A3):c.211G>A (p.Glu71Lys) rs267606683
NM_033409.4(SLC52A3):c.211G>T (p.Glu71Ter) rs267606683
NM_033409.4(SLC52A3):c.224T>C (p.Ile75Thr) rs797045193
NM_033409.4(SLC52A3):c.240C>T (p.Gly80=) rs34376836
NM_033409.4(SLC52A3):c.241G>A (p.Val81Met) rs546240059
NM_033409.4(SLC52A3):c.250G>A (p.Val84Ile)
NM_033409.4(SLC52A3):c.250G>C (p.Val84Leu) rs142064992
NM_033409.4(SLC52A3):c.272T>G (p.Phe91Cys) rs1481097414
NM_033409.4(SLC52A3):c.319G>A (p.Ala107Thr) rs370718326
NM_033409.4(SLC52A3):c.31G>A (p.Val11Ile) rs746808726
NM_033409.4(SLC52A3):c.327G>T (p.Leu109Phe)
NM_033409.4(SLC52A3):c.339C>T (p.Phe113=) rs151229044
NM_033409.4(SLC52A3):c.363C>G (p.Thr121=) rs749966154
NM_033409.4(SLC52A3):c.374C>A (p.Thr125Asn) rs767263985
NM_033409.4(SLC52A3):c.394C>T (p.Arg132Trp) rs267606684
NM_033409.4(SLC52A3):c.395G>A (p.Arg132Gln) rs142157418
NM_033409.4(SLC52A3):c.403A>G (p.Thr135Ala) rs527853872
NM_033409.4(SLC52A3):c.438A>G (p.Gly146=) rs149076913
NM_033409.4(SLC52A3):c.499G>A (p.Val167Ile)
NM_033409.4(SLC52A3):c.49T>C (p.Trp17Arg) rs797045190
NM_033409.4(SLC52A3):c.515T>C (p.Ile172Thr)
NM_033409.4(SLC52A3):c.517T>C (p.Ser173Pro)
NM_033409.4(SLC52A3):c.521A>G (p.Asp174Gly) rs6054614
NM_033409.4(SLC52A3):c.525C>G (p.Ser175Arg) rs143641819
NM_033409.4(SLC52A3):c.546G>A (p.Thr182=) rs139965967
NM_033409.4(SLC52A3):c.5C>T (p.Ala2Val) rs1472734097
NM_033409.4(SLC52A3):c.600C>T (p.Pro200=) rs16992990
NM_033409.4(SLC52A3):c.601G>A (p.Gly201Arg)
NM_033409.4(SLC52A3):c.618G>A (p.Leu206=) rs1418663109
NM_033409.4(SLC52A3):c.628G>A (p.Glu210Lys) rs747663714
NM_033409.4(SLC52A3):c.62A>G (p.Asn21Ser) rs199588390
NM_033409.4(SLC52A3):c.634C>T (p.Arg212Cys) rs778479139
NM_033409.4(SLC52A3):c.639C>G (p.Tyr213Ter) rs778363575
NM_033409.4(SLC52A3):c.646G>A (p.Ala216Thr)
NM_033409.4(SLC52A3):c.659C>A (p.Pro220His) rs797045194
NM_033409.4(SLC52A3):c.670T>C (p.Phe224Leu) rs267606685
NM_033409.4(SLC52A3):c.671T>G (p.Phe224Cys) rs797045197
NM_033409.4(SLC52A3):c.705C>T (p.Leu235=) rs3746806
NM_033409.4(SLC52A3):c.706G>A (p.Val236Met)
NM_033409.4(SLC52A3):c.728G>A (p.Arg243His)
NM_033409.4(SLC52A3):c.753del (p.Val252fs) rs1568721373
NM_033409.4(SLC52A3):c.754G>A (p.Val252Met)
NM_033409.4(SLC52A3):c.787C>T (p.His263Tyr)
NM_033409.4(SLC52A3):c.796C>T (p.Arg266Trp) rs370499474
NM_033409.4(SLC52A3):c.801G>A (p.Pro267=) rs146474751
NM_033409.4(SLC52A3):c.803G>A (p.Arg268Gln)
NM_033409.4(SLC52A3):c.82C>A (p.Pro28Thr) rs267606688
NM_033409.4(SLC52A3):c.834G>A (p.Thr278=) rs756359704
NM_033409.4(SLC52A3):c.890C>T (p.Pro297Leu)
NM_033409.4(SLC52A3):c.893C>T (p.Ala298Val) rs543436922
NM_033409.4(SLC52A3):c.894G>A (p.Ala298=) rs532778217
NM_033409.4(SLC52A3):c.914C>A (p.Thr305Asn)
NM_033409.4(SLC52A3):c.933C>T (p.Asn311=) rs534678154
NM_033409.4(SLC52A3):c.935C>T (p.Ala312Val) rs752218005
NM_033409.4(SLC52A3):c.936G>A (p.Ala312=) rs6054602
NM_033409.4(SLC52A3):c.945C>T (p.Asn315=) rs139430185
NM_033409.4(SLC52A3):c.950T>C (p.Met317Thr) rs1251411780
NM_033409.4(SLC52A3):c.955C>T (p.Pro319Ser) rs797045195
NM_033409.4(SLC52A3):c.981G>C (p.Leu327=) rs62641669
NM_033409.4(SLC52A3):c.987T>C (p.Tyr329=) rs376546378
NM_033409.4(SLC52A3):c.989G>T (p.Gly330Val) rs797045196
NM_033409.4(SLC52A3):c.994G>A (p.Val332Ile) rs890765839
NM_033409.4(SLC52A3):c.9C>T (p.Phe3=) rs139486822
SMN1, 11-BP DUP, 801-811
SMN1, 5-BP DEL, 425
SMN1, DEL
SMN1, EX8DEL
SMN1, IVS7DS, T-G, +6
Single allele rs544939272

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