ClinVar Miner

List of variants in gene ALS2 reported as uncertain significance by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 300
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HGVS dbSNP gnomAD frequency
NM_020919.4(ALS2):c.1641G>A (p.Arg547=) rs34122078 0.00038
NM_020919.4(ALS2):c.1037A>G (p.Asn346Ser) rs199757764 0.00021
NM_020919.4(ALS2):c.3656C>A (p.Thr1219Asn) rs372936145 0.00016
NM_020919.4(ALS2):c.3746T>C (p.Phe1249Ser) rs551822626 0.00014
NM_020919.4(ALS2):c.4957C>T (p.Arg1653Cys) rs200416249 0.00011
NM_020919.4(ALS2):c.3331G>A (p.Gly1111Ser) rs371454893 0.00010
NM_020919.4(ALS2):c.2978A>C (p.Lys993Thr) rs199875684 0.00009
NM_020919.4(ALS2):c.3622A>T (p.Met1208Leu) rs753470319 0.00009
NM_020919.4(ALS2):c.1815+4_1815+15del rs764299522 0.00008
NM_020919.4(ALS2):c.3721A>C (p.Asn1241His) rs774125951 0.00008
NM_020919.4(ALS2):c.2528G>A (p.Arg843Gln) rs368315489 0.00007
NM_020919.4(ALS2):c.2632C>T (p.Leu878Phe) rs568716023 0.00006
NM_020919.4(ALS2):c.2712G>A (p.Thr904=) rs201200488 0.00006
NM_020919.4(ALS2):c.3223A>G (p.Met1075Val) rs542644790 0.00006
NM_020919.4(ALS2):c.3985C>T (p.Arg1329Trp) rs372763746 0.00006
NM_020919.4(ALS2):c.4345G>A (p.Glu1449Lys) rs779841299 0.00006
NM_020919.4(ALS2):c.725T>C (p.Met242Thr) rs200733209 0.00006
NM_020919.4(ALS2):c.3047C>G (p.Pro1016Arg) rs776807292 0.00005
NM_020919.4(ALS2):c.3658A>G (p.Ile1220Val) rs370591665 0.00005
NM_020919.4(ALS2):c.3863C>T (p.Pro1288Leu) rs376835062 0.00005
NM_020919.4(ALS2):c.3983G>A (p.Ser1328Asn) rs1242751535 0.00005
NM_020919.4(ALS2):c.4213C>T (p.Arg1405Cys) rs572110252 0.00005
NM_020919.4(ALS2):c.4495C>T (p.Arg1499Cys) rs112869526 0.00005
NM_020919.4(ALS2):c.1129G>A (p.Ala377Thr) rs200990057 0.00004
NM_020919.4(ALS2):c.1265T>C (p.Met422Thr) rs372175711 0.00004
NM_020919.4(ALS2):c.1783G>A (p.Asp595Asn) rs199603159 0.00004
NM_020919.4(ALS2):c.2282A>G (p.His761Arg) rs370377488 0.00004
NM_020919.4(ALS2):c.3062G>A (p.Ser1021Asn) rs187637699 0.00004
NM_020919.4(ALS2):c.3437C>T (p.Ser1146Phe) rs865875067 0.00004
NM_020919.4(ALS2):c.395C>T (p.Pro132Leu) rs41308810 0.00004
NM_020919.4(ALS2):c.4958G>A (p.Arg1653His) rs190606035 0.00004
NM_020919.4(ALS2):c.508G>A (p.Glu170Lys) rs189254609 0.00004
NM_020919.4(ALS2):c.886G>A (p.Ala296Thr) rs765049503 0.00004
NM_020919.4(ALS2):c.1048C>T (p.Arg350Trp) rs769268310 0.00003
NM_020919.4(ALS2):c.1433G>C (p.Gly478Ala) rs373603368 0.00003
NM_020919.4(ALS2):c.1737+3A>G rs3219158 0.00003
NM_020919.4(ALS2):c.1960A>G (p.Ser654Gly) rs61757690 0.00003
NM_020919.4(ALS2):c.1998+6C>G rs1359989080 0.00003
NM_020919.4(ALS2):c.2089G>A (p.Glu697Lys) rs772918314 0.00003
NM_020919.4(ALS2):c.2855A>G (p.His952Arg) rs372139071 0.00003
NM_020919.4(ALS2):c.313G>A (p.Ala105Thr) rs760204583 0.00003
NM_020919.4(ALS2):c.3395G>A (p.Arg1132His) rs753713733 0.00003
NM_020919.4(ALS2):c.3416G>A (p.Arg1139Gln) rs761444982 0.00003
NM_020919.4(ALS2):c.4021C>T (p.Arg1341Cys) rs771371026 0.00003
NM_020919.4(ALS2):c.815C>T (p.Ala272Val) rs769548352 0.00003
NM_020919.4(ALS2):c.956C>T (p.Ser319Phe) rs367631249 0.00003
NM_020919.4(ALS2):c.1008A>G (p.Ile336Met) rs758265576 0.00002
NM_020919.4(ALS2):c.1151C>T (p.Pro384Leu) rs1216448093 0.00002
NM_020919.4(ALS2):c.1502G>A (p.Arg501Gln) rs760216233 0.00002
NM_020919.4(ALS2):c.1624G>A (p.Gly542Ser) rs778030657 0.00002
NM_020919.4(ALS2):c.269G>A (p.Gly90Glu) rs374117082 0.00002
NM_020919.4(ALS2):c.272A>G (p.Gln91Arg) rs749141308 0.00002
NM_020919.4(ALS2):c.2833C>T (p.His945Tyr) rs768066388 0.00002
NM_020919.4(ALS2):c.2849C>T (p.Thr950Met) rs998799740 0.00002
NM_020919.4(ALS2):c.3128G>A (p.Arg1043His) rs755618674 0.00002
NM_020919.4(ALS2):c.3134A>T (p.Lys1045Met) rs781051642 0.00002
NM_020919.4(ALS2):c.3280A>G (p.Met1094Val) rs772708880 0.00002
NM_020919.4(ALS2):c.3307C>A (p.His1103Asn) rs778406073 0.00002
NM_020919.4(ALS2):c.334G>A (p.Ala112Thr) rs372826085 0.00002
NM_020919.4(ALS2):c.3394C>T (p.Arg1132Cys) rs149670991 0.00002
NM_020919.4(ALS2):c.3442C>T (p.Pro1148Ser) rs771334830 0.00002
NM_020919.4(ALS2):c.35A>G (p.Glu12Gly) rs765976513 0.00002
NM_020919.4(ALS2):c.3617A>C (p.Lys1206Thr) rs376031467 0.00002
NM_020919.4(ALS2):c.37G>A (p.Gly13Arg) rs367871772 0.00002
NM_020919.4(ALS2):c.3956A>G (p.Asp1319Gly) rs757425560 0.00002
NM_020919.4(ALS2):c.4037C>G (p.Thr1346Arg) rs1232828907 0.00002
NM_020919.4(ALS2):c.4145C>T (p.Pro1382Leu) rs377174814 0.00002
NM_020919.4(ALS2):c.4636A>G (p.Thr1546Ala) rs772918575 0.00002
NM_020919.4(ALS2):c.62A>G (p.His21Arg) rs775695422 0.00002
NM_020919.4(ALS2):c.88A>G (p.Ile30Val) rs199947290 0.00002
NM_020919.4(ALS2):c.1033G>A (p.Val345Ile) rs768018989 0.00001
NM_020919.4(ALS2):c.1049G>A (p.Arg350Gln) rs763352024 0.00001
NM_020919.4(ALS2):c.1139A>C (p.Asn380Thr) rs1014182274 0.00001
NM_020919.4(ALS2):c.1171G>A (p.Ala391Thr) rs41308816 0.00001
NM_020919.4(ALS2):c.1249T>C (p.Ser417Pro) rs1224213694 0.00001
NM_020919.4(ALS2):c.1483C>G (p.Leu495Val) rs371171182 0.00001
NM_020919.4(ALS2):c.1531C>A (p.Pro511Thr) rs534602366 0.00001
NM_020919.4(ALS2):c.1816A>T (p.Ile606Leu) rs977136303 0.00001
NM_020919.4(ALS2):c.1885G>A (p.Glu629Lys) rs748812008 0.00001
NM_020919.4(ALS2):c.1964G>A (p.Gly655Asp) rs759573942 0.00001
NM_020919.4(ALS2):c.1969A>G (p.Lys657Glu) rs753947052 0.00001
NM_020919.4(ALS2):c.1988C>T (p.Ser663Phe) rs1410762746 0.00001
NM_020919.4(ALS2):c.2108G>C (p.Arg703Thr) rs770565853 0.00001
NM_020919.4(ALS2):c.2111G>A (p.Arg704Gln) rs200088152 0.00001
NM_020919.4(ALS2):c.2222G>A (p.Arg741Gln) rs753349655 0.00001
NM_020919.4(ALS2):c.2337G>C (p.Leu779Phe) rs752549107 0.00001
NM_020919.4(ALS2):c.2362T>A (p.Ser788Thr) rs1184685995 0.00001
NM_020919.4(ALS2):c.2566A>G (p.Thr856Ala) rs758153067 0.00001
NM_020919.4(ALS2):c.2606A>C (p.Gln869Pro) rs1355321952 0.00001
NM_020919.4(ALS2):c.2779C>A (p.His927Asn) rs775164520 0.00001
NM_020919.4(ALS2):c.2876T>C (p.Leu959Pro) rs1178248335 0.00001
NM_020919.4(ALS2):c.3094C>T (p.Arg1032Cys) rs1054031459 0.00001
NM_020919.4(ALS2):c.3099T>A (p.Ser1033Arg) rs778609581 0.00001
NM_020919.4(ALS2):c.3145T>G (p.Tyr1049Asp) rs1691184710 0.00001
NM_020919.4(ALS2):c.3249G>A (p.Gly1083=) rs751623487 0.00001
NM_020919.4(ALS2):c.326A>G (p.Asn109Ser) rs191980454 0.00001
NM_020919.4(ALS2):c.329G>T (p.Gly110Val) rs758017229 0.00001
NM_020919.4(ALS2):c.3440C>G (p.Ser1147Cys) rs777004596 0.00001
NM_020919.4(ALS2):c.3547G>A (p.Val1183Met) rs762235200 0.00001
NM_020919.4(ALS2):c.3584G>T (p.Gly1195Val) rs746029055 0.00001
NM_020919.4(ALS2):c.3616A>G (p.Lys1206Glu) rs1271344719 0.00001
NM_020919.4(ALS2):c.367T>C (p.Cys123Arg) rs1429775734 0.00001
NM_020919.4(ALS2):c.3904C>T (p.Arg1302Cys) rs759509511 0.00001
NM_020919.4(ALS2):c.3989G>A (p.Arg1330His) rs766208922 0.00001
NM_020919.4(ALS2):c.4022G>A (p.Arg1341His) rs761291489 0.00001
NM_020919.4(ALS2):c.4177G>A (p.Val1393Met) rs757128191 0.00001
NM_020919.4(ALS2):c.4195G>A (p.Val1399Met) rs41309054 0.00001
NM_020919.4(ALS2):c.4214G>A (p.Arg1405His) rs768669586 0.00001
NM_020919.4(ALS2):c.4382G>A (p.Arg1461Gln) rs758889641 0.00001
NM_020919.4(ALS2):c.4435C>T (p.Pro1479Ser) rs534239794 0.00001
NM_020919.4(ALS2):c.4451G>A (p.Arg1484Gln) rs772543276 0.00001
NM_020919.4(ALS2):c.4498G>A (p.Glu1500Lys) rs780151065 0.00001
NM_020919.4(ALS2):c.4507A>G (p.Ile1503Val) rs373792828 0.00001
NM_020919.4(ALS2):c.4581-3T>C rs766074258 0.00001
NM_020919.4(ALS2):c.4733C>T (p.Thr1578Ile) rs1411563415 0.00001
NM_020919.4(ALS2):c.4763C>T (p.Ala1588Val) rs540726634 0.00001
NM_020919.4(ALS2):c.4820A>T (p.Tyr1607Phe) rs370296035 0.00001
NM_020919.4(ALS2):c.4871T>C (p.Ile1624Thr) rs189412622 0.00001
NM_020919.4(ALS2):c.4909C>T (p.Gln1637Ter) rs1689551469 0.00001
NM_020919.4(ALS2):c.499A>G (p.Ile167Val) rs575412396 0.00001
NM_020919.4(ALS2):c.575C>T (p.Pro192Leu) rs778003334 0.00001
NM_020919.4(ALS2):c.602G>A (p.Arg201Gln) rs1476737735 0.00001
NM_020919.4(ALS2):c.853A>G (p.Arg285Gly) rs778865969 0.00001
NM_020919.4(ALS2):c.979A>G (p.Thr327Ala) rs918262232 0.00001
NC_000002.11:g.(?_202566574)_(202633608_?)dup
NC_000002.11:g.(?_202571549)_(202571765_?)del
NM_020919.4(ALS2):c.1009C>A (p.Pro337Thr)
NM_020919.4(ALS2):c.1016A>G (p.Tyr339Cys) rs1693728773
NM_020919.4(ALS2):c.1042T>C (p.Tyr348His) rs2106087522
NM_020919.4(ALS2):c.111C>G (p.Gly37=) rs2106102416
NM_020919.4(ALS2):c.116G>A (p.Gly39Glu) rs2106102393
NM_020919.4(ALS2):c.1171G>T (p.Ala391Ser) rs41308816
NM_020919.4(ALS2):c.1196G>A (p.Cys399Tyr)
NM_020919.4(ALS2):c.1204G>A (p.Ala402Thr)
NM_020919.4(ALS2):c.1241G>A (p.Gly414Asp) rs1559079541
NM_020919.4(ALS2):c.1250C>T (p.Ser417Leu)
NM_020919.4(ALS2):c.1256A>T (p.Lys419Met) rs2106080408
NM_020919.4(ALS2):c.1319C>G (p.Ala440Gly)
NM_020919.4(ALS2):c.131T>C (p.Leu44Ser)
NM_020919.4(ALS2):c.1325G>C (p.Gly442Ala) rs780750146
NM_020919.4(ALS2):c.1348A>T (p.Arg450Trp)
NM_020919.4(ALS2):c.1414G>A (p.Glu472Lys)
NM_020919.4(ALS2):c.1439G>A (p.Arg480Gln) rs762706628
NM_020919.4(ALS2):c.1471+3A>G rs2106079904
NM_020919.4(ALS2):c.1540A>G (p.Ser514Gly)
NM_020919.4(ALS2):c.154C>T (p.His52Tyr) rs1694137725
NM_020919.4(ALS2):c.1550C>G (p.Ala517Gly)
NM_020919.4(ALS2):c.1553A>G (p.Asp518Gly) rs1380894802
NM_020919.4(ALS2):c.1556C>T (p.Ala519Val)
NM_020919.4(ALS2):c.162TCT[1] (p.Leu56del) rs1320134230
NM_020919.4(ALS2):c.163C>T (p.Leu55Phe)
NM_020919.4(ALS2):c.1673G>A (p.Gly558Asp)
NM_020919.4(ALS2):c.1685T>C (p.Ile562Thr) rs2106071633
NM_020919.4(ALS2):c.1686C>G (p.Ile562Met)
NM_020919.4(ALS2):c.169A>G (p.Thr57Ala) rs2106102252
NM_020919.4(ALS2):c.1819A>G (p.Ser607Gly)
NM_020919.4(ALS2):c.1850C>T (p.Ala617Val) rs2106056896
NM_020919.4(ALS2):c.1855A>G (p.Arg619Gly) rs773125812
NM_020919.4(ALS2):c.1880A>G (p.Asp627Gly)
NM_020919.4(ALS2):c.1886A>G (p.Glu629Gly) rs1692682988
NM_020919.4(ALS2):c.188A>G (p.Tyr63Cys)
NM_020919.4(ALS2):c.1919G>A (p.Arg640Gln)
NM_020919.4(ALS2):c.1946T>C (p.Leu649Pro)
NM_020919.4(ALS2):c.1960A>C (p.Ser654Arg) rs61757690
NM_020919.4(ALS2):c.196G>A (p.Gly66Arg)
NM_020919.4(ALS2):c.197G>A (p.Gly66Glu)
NM_020919.4(ALS2):c.1998+4A>G rs773142036
NM_020919.4(ALS2):c.2024C>G (p.Ala675Gly) rs201232912
NM_020919.4(ALS2):c.2032G>T (p.Asp678Tyr)
NM_020919.4(ALS2):c.2072A>C (p.Tyr691Ser) rs2106050968
NM_020919.4(ALS2):c.2077G>A (p.Ala693Thr) rs2106050920
NM_020919.4(ALS2):c.2088C>G (p.His696Gln)
NM_020919.4(ALS2):c.2117A>G (p.Tyr706Cys)
NM_020919.4(ALS2):c.215G>A (p.Ser72Asn) rs2106090137
NM_020919.4(ALS2):c.2171-3T>C rs1250880797
NM_020919.4(ALS2):c.2186C>A (p.Thr729Lys)
NM_020919.4(ALS2):c.218G>A (p.Gly73Glu) rs754181704
NM_020919.4(ALS2):c.226G>A (p.Glu76Lys) rs2106090105
NM_020919.4(ALS2):c.2272A>G (p.Ser758Gly)
NM_020919.4(ALS2):c.2302A>G (p.Ser768Gly) rs2106044167
NM_020919.4(ALS2):c.2320C>T (p.His774Tyr)
NM_020919.4(ALS2):c.2351A>G (p.Glu784Gly)
NM_020919.4(ALS2):c.2352-12T>A
NM_020919.4(ALS2):c.236C>G (p.Pro79Arg) rs1346805773
NM_020919.4(ALS2):c.2386G>C (p.Gly796Arg) rs2106035788
NM_020919.4(ALS2):c.2430T>G (p.Asn810Lys) rs1691694793
NM_020919.4(ALS2):c.2479A>G (p.Thr827Ala) rs202219507
NM_020919.4(ALS2):c.2521A>G (p.Ile841Val)
NM_020919.4(ALS2):c.2525G>C (p.Arg842Thr)
NM_020919.4(ALS2):c.2539T>C (p.Tyr847His)
NM_020919.4(ALS2):c.2560C>G (p.Leu854Val) rs1691685356
NM_020919.4(ALS2):c.256A>G (p.Asn86Asp) rs2106090029
NM_020919.4(ALS2):c.2578G>A (p.Val860Met)
NM_020919.4(ALS2):c.2581-5T>A rs1171928153
NM_020919.4(ALS2):c.2630G>A (p.Cys877Tyr) rs1691380417
NM_020919.4(ALS2):c.2639T>C (p.Leu880Pro) rs2106012816
NM_020919.4(ALS2):c.2647G>A (p.Gly883Ser)
NM_020919.4(ALS2):c.2647G>T (p.Gly883Cys)
NM_020919.4(ALS2):c.2651G>A (p.Arg884Lys) rs371408833
NM_020919.4(ALS2):c.2712+5G>A
NM_020919.4(ALS2):c.2756G>C (p.Ser919Thr) rs2106011572
NM_020919.4(ALS2):c.2875C>A (p.Leu959Met) rs1553506293
NM_020919.4(ALS2):c.2923A>G (p.Lys975Glu)
NM_020919.4(ALS2):c.2926A>G (p.Ile976Val)
NM_020919.4(ALS2):c.2979G>A (p.Lys993=) rs1559050770
NM_020919.4(ALS2):c.2980A>C (p.Thr994Pro) rs1359312602
NM_020919.4(ALS2):c.2998A>G (p.Ile1000Val)
NM_020919.4(ALS2):c.3015T>G (p.Asp1005Glu) rs2106006938
NM_020919.4(ALS2):c.3046C>A (p.Pro1016Thr)
NM_020919.4(ALS2):c.3047C>A (p.Pro1016His)
NM_020919.4(ALS2):c.3053G>A (p.Gly1018Glu) rs2106006781
NM_020919.4(ALS2):c.3085C>T (p.Pro1029Ser) rs377400784
NM_020919.4(ALS2):c.3095G>A (p.Arg1032His)
NM_020919.4(ALS2):c.3136G>A (p.Asp1046Asn)
NM_020919.4(ALS2):c.3139G>A (p.Ala1047Thr)
NM_020919.4(ALS2):c.3146A>G (p.Tyr1049Cys)
NM_020919.4(ALS2):c.3155G>A (p.Arg1052His)
NM_020919.4(ALS2):c.3183-3C>G rs1559049881
NM_020919.4(ALS2):c.3194A>C (p.Lys1065Thr)
NM_020919.4(ALS2):c.3215A>T (p.Tyr1072Phe)
NM_020919.4(ALS2):c.3271A>T (p.Asn1091Tyr)
NM_020919.4(ALS2):c.3381T>A (p.Phe1127Leu) rs2106001346
NM_020919.4(ALS2):c.3394C>A (p.Arg1132Ser)
NM_020919.4(ALS2):c.3442_3444del (p.Pro1148del) rs2106001109
NM_020919.4(ALS2):c.3449T>A (p.Met1150Lys) rs747308306
NM_020919.4(ALS2):c.3512+6G>A
NM_020919.4(ALS2):c.3513-7T>A rs1237267302
NM_020919.4(ALS2):c.3534G>C (p.Met1178Ile)
NM_020919.4(ALS2):c.356CTG[1] (p.Ala120del)
NM_020919.4(ALS2):c.3602A>C (p.Asn1201Thr)
NM_020919.4(ALS2):c.3624+3G>C rs2105998722
NM_020919.4(ALS2):c.3624+6T>C rs886823785
NM_020919.4(ALS2):c.3653A>G (p.Asp1218Gly) rs2105998170
NM_020919.4(ALS2):c.3666A>T (p.Glu1222Asp)
NM_020919.4(ALS2):c.3692T>A (p.Leu1231His)
NM_020919.4(ALS2):c.3785C>T (p.Thr1262Ile) rs1553503506
NM_020919.4(ALS2):c.3797C>G (p.Pro1266Arg)
NM_020919.4(ALS2):c.3808G>A (p.Glu1270Lys)
NM_020919.4(ALS2):c.3809A>G (p.Glu1270Gly) rs891714775
NM_020919.4(ALS2):c.3814G>A (p.Asp1272Asn)
NM_020919.4(ALS2):c.3836+3G>A rs2105987125
NM_020919.4(ALS2):c.3860_3865del (p.Val1287_Pro1288del) rs759145161
NM_020919.4(ALS2):c.3884C>T (p.Ala1295Val)
NM_020919.4(ALS2):c.3900_3902del (p.Cys1300del)
NM_020919.4(ALS2):c.3939A>C (p.Glu1313Asp) rs781519422
NM_020919.4(ALS2):c.3986G>A (p.Arg1329Gln) rs753871476
NM_020919.4(ALS2):c.4004+6T>A rs1553502811
NM_020919.4(ALS2):c.4022G>T (p.Arg1341Leu) rs761291489
NM_020919.4(ALS2):c.409G>A (p.Val137Ile)
NM_020919.4(ALS2):c.4141C>T (p.His1381Tyr) rs1574665478
NM_020919.4(ALS2):c.4150G>A (p.Gly1384Ser)
NM_020919.4(ALS2):c.4181A>G (p.Tyr1394Cys)
NM_020919.4(ALS2):c.4201G>A (p.Val1401Ile)
NM_020919.4(ALS2):c.4243A>G (p.Ile1415Val)
NM_020919.4(ALS2):c.4281G>A (p.Arg1427=)
NM_020919.4(ALS2):c.4281G>T (p.Arg1427Ser) rs746790680
NM_020919.4(ALS2):c.4305A>C (p.Glu1435Asp)
NM_020919.4(ALS2):c.4333C>G (p.Pro1445Ala) rs1559032116
NM_020919.4(ALS2):c.4363A>G (p.Thr1455Ala)
NM_020919.4(ALS2):c.4396G>A (p.Glu1466Lys)
NM_020919.4(ALS2):c.4399C>G (p.Pro1467Ala) rs180758472
NM_020919.4(ALS2):c.4436C>G (p.Pro1479Arg) rs769600851
NM_020919.4(ALS2):c.4478A>C (p.Tyr1493Ser) rs1689754943
NM_020919.4(ALS2):c.4536T>G (p.Asn1512Lys)
NM_020919.4(ALS2):c.4567C>T (p.Leu1523Phe)
NM_020919.4(ALS2):c.4591C>G (p.Pro1531Ala)
NM_020919.4(ALS2):c.4626+6G>A rs931003947
NM_020919.4(ALS2):c.4627G>T (p.Val1543Phe) rs760222980
NM_020919.4(ALS2):c.4640C>T (p.Thr1547Met) rs1472406927
NM_020919.4(ALS2):c.469T>G (p.Cys157Gly) rs1693768160
NM_020919.4(ALS2):c.4708G>C (p.Asp1570His)
NM_020919.4(ALS2):c.4751A>T (p.Gln1584Leu)
NM_020919.4(ALS2):c.4817T>C (p.Leu1606Ser)
NM_020919.4(ALS2):c.4832G>A (p.Arg1611Gln) rs1689578912
NM_020919.4(ALS2):c.4832G>C (p.Arg1611Pro)
NM_020919.4(ALS2):c.4837A>T (p.Arg1613Trp) rs1689578448
NM_020919.4(ALS2):c.4858G>A (p.Glu1620Lys) rs1559027755
NM_020919.4(ALS2):c.4878T>A (p.Asp1626Glu) rs2105963102
NM_020919.4(ALS2):c.4897C>T (p.Gln1633Ter) rs797044934
NM_020919.4(ALS2):c.4910A>G (p.Gln1637Arg) rs1290433006
NM_020919.4(ALS2):c.4936-1G>C
NM_020919.4(ALS2):c.514T>G (p.Trp172Gly) rs2106089188
NM_020919.4(ALS2):c.533G>T (p.Cys178Phe)
NM_020919.4(ALS2):c.653A>G (p.Gln218Arg)
NM_020919.4(ALS2):c.661C>T (p.Pro221Ser)
NM_020919.4(ALS2):c.676A>G (p.Lys226Glu)
NM_020919.4(ALS2):c.71A>G (p.Gln24Arg) rs947112051
NM_020919.4(ALS2):c.749T>C (p.Ile250Thr) rs2106088499
NM_020919.4(ALS2):c.77G>C (p.Gly26Ala) rs1189474050
NM_020919.4(ALS2):c.784A>G (p.Thr262Ala)
NM_020919.4(ALS2):c.845C>T (p.Thr282Ile)
NM_020919.4(ALS2):c.848T>G (p.Leu283Arg)
NM_020919.4(ALS2):c.878C>T (p.Thr293Ile) rs537187775
NM_020919.4(ALS2):c.881T>C (p.Leu294Pro)
NM_020919.4(ALS2):c.883G>A (p.Val295Ile)
NM_020919.4(ALS2):c.902T>C (p.Val301Ala)
NM_020919.4(ALS2):c.907A>G (p.Thr303Ala)
NM_020919.4(ALS2):c.929C>T (p.Ala310Val)
NM_020919.4(ALS2):c.92C>T (p.Thr31Ile)
NM_020919.4(ALS2):c.938C>G (p.Thr313Arg)

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