ClinVar Miner

List of variants in gene ALS2 reported as likely benign by Invitae

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 299
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HGVS dbSNP gnomAD frequency
NM_020919.4(ALS2):c.3741T>G (p.Gly1247=) rs3219166 0.00112
NM_020919.4(ALS2):c.3905G>A (p.Arg1302His) rs199577696 0.00105
NM_020919.4(ALS2):c.1115C>G (p.Pro372Arg) rs190369242 0.00100
NM_020919.4(ALS2):c.3046C>G (p.Pro1016Ala) rs41308840 0.00099
NM_020919.4(ALS2):c.2980-18G>A rs3219162 0.00067
NM_020919.4(ALS2):c.2479A>T (p.Thr827Ser) rs202219507 0.00061
NM_020919.4(ALS2):c.4964A>C (p.Lys1655Thr) rs199751225 0.00046
NM_020919.4(ALS2):c.2520A>C (p.Pro840=) rs201159691 0.00045
NM_020919.4(ALS2):c.1832G>C (p.Gly611Ala) rs201335536 0.00043
NM_020919.4(ALS2):c.4688+15G>A rs139919006 0.00039
NM_020919.4(ALS2):c.2417+17C>T rs143734740 0.00036
NM_020919.4(ALS2):c.1677A>G (p.Lys559=) rs367640165 0.00026
NM_020919.4(ALS2):c.3872A>G (p.Glu1291Gly) rs147078120 0.00025
NM_020919.4(ALS2):c.1782C>T (p.Ser594=) rs371287525 0.00021
NM_020919.4(ALS2):c.2350G>A (p.Glu784Lys) rs199979606 0.00019
NM_020919.4(ALS2):c.2979+8T>C rs373602123 0.00019
NM_020919.4(ALS2):c.1164C>T (p.Ser388=) rs372566343 0.00018
NM_020919.4(ALS2):c.1578A>G (p.Thr526=) rs147284131 0.00016
NM_020919.4(ALS2):c.3625-5T>C rs182151978 0.00015
NM_020919.4(ALS2):c.3876G>A (p.Lys1292=) rs200417604 0.00015
NM_020919.4(ALS2):c.1114-19T>G rs200448709 0.00014
NM_020919.4(ALS2):c.358G>T (p.Ala120Ser) rs202084736 0.00014
NM_020919.4(ALS2):c.396G>A (p.Pro132=) rs374978798 0.00013
NM_020919.4(ALS2):c.267T>C (p.Val89=) rs571219883 0.00012
NM_020919.4(ALS2):c.4280+15C>T rs777662520 0.00012
NM_020919.4(ALS2):c.4317A>C (p.Thr1439=) rs376011573 0.00011
NM_020919.4(ALS2):c.331G>A (p.Val111Ile) rs61745503 0.00010
NM_020919.4(ALS2):c.4415C>T (p.Thr1472Met) rs201089588 0.00010
NM_020919.4(ALS2):c.2616T>C (p.Ser872=) rs368816555 0.00009
NM_020919.4(ALS2):c.366G>A (p.Gln122=) rs775483404 0.00008
NM_020919.4(ALS2):c.4107G>A (p.Arg1369=) rs779286010 0.00007
NM_020919.4(ALS2):c.4368G>A (p.Gly1456=) rs751906518 0.00007
NM_020919.4(ALS2):c.1623C>T (p.His541=) rs377247745 0.00006
NM_020919.4(ALS2):c.2913-7G>A rs1317044515 0.00006
NM_020919.4(ALS2):c.3330C>T (p.Cys1110=) rs375386357 0.00006
NM_020919.4(ALS2):c.3486A>C (p.Gly1162=) rs41309044 0.00006
NM_020919.4(ALS2):c.3836+18A>C rs180781055 0.00006
NM_020919.4(ALS2):c.4194C>T (p.Tyr1398=) rs764925739 0.00006
NM_020919.4(ALS2):c.4200C>T (p.Gly1400=) rs376976879 0.00005
NM_020919.4(ALS2):c.861A>G (p.Glu287=) rs780368192 0.00005
NM_020919.4(ALS2):c.1290T>C (p.Cys430=) rs768502916 0.00004
NM_020919.4(ALS2):c.175+18G>A rs374705603 0.00004
NM_020919.4(ALS2):c.18A>G (p.Arg6=) rs375556249 0.00004
NM_020919.4(ALS2):c.2004A>G (p.Gly668=) rs766414217 0.00004
NM_020919.4(ALS2):c.2331C>G (p.Leu777=) rs758546397 0.00004
NM_020919.4(ALS2):c.2541C>T (p.Tyr847=) rs181782027 0.00004
NM_020919.4(ALS2):c.3319G>A (p.Gly1107Arg) rs757704778 0.00004
NM_020919.4(ALS2):c.3564T>C (p.Gly1188=) rs41309048 0.00004
NM_020919.4(ALS2):c.3594C>T (p.Tyr1198=) rs781454879 0.00004
NM_020919.4(ALS2):c.4164G>A (p.Glu1388=) rs781112431 0.00004
NM_020919.4(ALS2):c.474C>T (p.Gly158=) rs373190287 0.00004
NM_020919.4(ALS2):c.1472-10T>G rs376714642 0.00003
NM_020919.4(ALS2):c.2193A>G (p.Thr731=) rs757561918 0.00003
NM_020919.4(ALS2):c.2443C>T (p.Leu815=) rs200315481 0.00003
NM_020919.4(ALS2):c.2912+9G>T rs543664811 0.00003
NM_020919.4(ALS2):c.2913-8C>T rs764690525 0.00003
NM_020919.4(ALS2):c.333C>T (p.Val111=) rs200617418 0.00003
NM_020919.4(ALS2):c.3466G>C (p.Val1156Leu) rs191150274 0.00003
NM_020919.4(ALS2):c.3702+20T>G rs200587972 0.00003
NM_020919.4(ALS2):c.4404-17A>G rs755115415 0.00003
NM_020919.4(ALS2):c.4854C>T (p.Gly1618=) rs754172366 0.00003
NM_020919.4(ALS2):c.4861G>A (p.Val1621Ile) rs767012535 0.00003
NM_020919.4(ALS2):c.528C>T (p.Thr176=) rs35097965 0.00003
NM_020919.4(ALS2):c.1114-17A>G rs764548964 0.00002
NM_020919.4(ALS2):c.1558C>T (p.Leu520Phe) rs569869571 0.00002
NM_020919.4(ALS2):c.1815+8T>G rs746020900 0.00002
NM_020919.4(ALS2):c.2171-9T>C rs202247155 0.00002
NM_020919.4(ALS2):c.339C>T (p.Tyr113=) rs370824570 0.00002
NM_020919.4(ALS2):c.3894C>T (p.Asp1298=) rs371428175 0.00002
NM_020919.4(ALS2):c.468G>A (p.Ala156=) rs145506395 0.00002
NM_020919.4(ALS2):c.4773C>T (p.His1591=) rs369015911 0.00002
NM_020919.4(ALS2):c.4881A>G (p.Leu1627=) rs200069179 0.00002
NM_020919.4(ALS2):c.1032A>G (p.Ala344=) rs1002785073 0.00001
NM_020919.4(ALS2):c.1472-17G>A rs754928761 0.00001
NM_020919.4(ALS2):c.1479C>T (p.Pro493=) rs759422605 0.00001
NM_020919.4(ALS2):c.1509A>G (p.Lys503=) rs199634928 0.00001
NM_020919.4(ALS2):c.1640+10A>G rs755148474 0.00001
NM_020919.4(ALS2):c.1641-16T>C rs544486564 0.00001
NM_020919.4(ALS2):c.1650G>A (p.Pro550=) rs749442386 0.00001
NM_020919.4(ALS2):c.1887A>G (p.Glu629=) rs779616966 0.00001
NM_020919.4(ALS2):c.2088C>T (p.His696=) rs762894364 0.00001
NM_020919.4(ALS2):c.2170+11A>G rs757541768 0.00001
NM_020919.4(ALS2):c.2171-7G>A rs376270303 0.00001
NM_020919.4(ALS2):c.2403T>C (p.Leu801=) rs202157209 0.00001
NM_020919.4(ALS2):c.2417+10C>T rs751211602 0.00001
NM_020919.4(ALS2):c.246C>T (p.Pro82=) rs773403266 0.00001
NM_020919.4(ALS2):c.2526A>G (p.Arg842=) rs1367631173 0.00001
NM_020919.4(ALS2):c.2604G>A (p.Leu868=) rs1330200086 0.00001
NM_020919.4(ALS2):c.2712+16T>G rs766225716 0.00001
NM_020919.4(ALS2):c.2712+8A>C rs759746887 0.00001
NM_020919.4(ALS2):c.2745G>A (p.Leu915=) rs760609748 0.00001
NM_020919.4(ALS2):c.2802T>C (p.Asn934=) rs1265678329 0.00001
NM_020919.4(ALS2):c.2842-17C>T rs373865914 0.00001
NM_020919.4(ALS2):c.2842-9C>G rs1559051501 0.00001
NM_020919.4(ALS2):c.2856T>C (p.His952=) rs1343812559 0.00001
NM_020919.4(ALS2):c.2909G>T (p.Gly970Val) rs375742430 0.00001
NM_020919.4(ALS2):c.2912+8C>T rs528131651 0.00001
NM_020919.4(ALS2):c.3078G>A (p.Gln1026=) rs747093220 0.00001
NM_020919.4(ALS2):c.3204T>C (p.Asp1068=) rs980513078 0.00001
NM_020919.4(ALS2):c.3345C>T (p.Tyr1115=) rs557709223 0.00001
NM_020919.4(ALS2):c.3558G>A (p.Gly1186=) rs1160534998 0.00001
NM_020919.4(ALS2):c.3837-15A>G rs367873957 0.00001
NM_020919.4(ALS2):c.3858A>G (p.Ala1286=) rs777272990 0.00001
NM_020919.4(ALS2):c.405T>C (p.Asn135=) rs904657691 0.00001
NM_020919.4(ALS2):c.4581-16A>G rs765259932 0.00001
NM_020919.4(ALS2):c.4626+10A>G rs1366207920 0.00001
NM_020919.4(ALS2):c.4627-5T>C rs764322790 0.00001
NM_020919.4(ALS2):c.4641G>A (p.Thr1547=) rs759206593 0.00001
NM_020919.4(ALS2):c.660C>G (p.Leu220=) rs776870519 0.00001
NM_020919.4(ALS2):c.1044C>T (p.Tyr348=) rs1693726956
NM_020919.4(ALS2):c.1054C>T (p.Leu352=) rs1574786180
NM_020919.4(ALS2):c.1091G>A (p.Gly364Asp)
NM_020919.4(ALS2):c.1113+10C>T
NM_020919.4(ALS2):c.1113+12A>G
NM_020919.4(ALS2):c.1113+17A>G
NM_020919.4(ALS2):c.1152G>T (p.Pro384=)
NM_020919.4(ALS2):c.1183C>T (p.Leu395=)
NM_020919.4(ALS2):c.1233T>C (p.Tyr411=)
NM_020919.4(ALS2):c.1248G>A (p.Leu416=)
NM_020919.4(ALS2):c.1254G>A (p.Leu418=)
NM_020919.4(ALS2):c.138A>G (p.Ala46=) rs2106102340
NM_020919.4(ALS2):c.1416A>G (p.Glu472=)
NM_020919.4(ALS2):c.141C>G (p.Ala47=)
NM_020919.4(ALS2):c.1446C>T (p.Leu482=) rs765154810
NM_020919.4(ALS2):c.144C>A (p.Leu48=)
NM_020919.4(ALS2):c.1458A>G (p.Gly486=)
NM_020919.4(ALS2):c.1472-20C>T
NM_020919.4(ALS2):c.1536A>G (p.Thr512=)
NM_020919.4(ALS2):c.1611G>A (p.Gly537=) rs1400155946
NM_020919.4(ALS2):c.1626C>T (p.Gly542=)
NM_020919.4(ALS2):c.1640+7G>A
NM_020919.4(ALS2):c.1641-20C>T
NM_020919.4(ALS2):c.1641-4T>A
NM_020919.4(ALS2):c.1653G>A (p.Leu551=) rs2106071743
NM_020919.4(ALS2):c.1659A>G (p.Val553=) rs1553513336
NM_020919.4(ALS2):c.1686C>A (p.Ile562=)
NM_020919.4(ALS2):c.1689T>C (p.His563=)
NM_020919.4(ALS2):c.1728G>A (p.Ala576=)
NM_020919.4(ALS2):c.1728G>T (p.Ala576=) rs764961356
NM_020919.4(ALS2):c.1737+7G>A
NM_020919.4(ALS2):c.175+15G>T
NM_020919.4(ALS2):c.176-7C>T
NM_020919.4(ALS2):c.176-8dup rs1559084482
NM_020919.4(ALS2):c.1770A>G (p.Gln590=)
NM_020919.4(ALS2):c.1815+15T>C
NM_020919.4(ALS2):c.1816-17T>C
NM_020919.4(ALS2):c.1816-18_1816-17del
NM_020919.4(ALS2):c.1816-19T>C rs2106057101
NM_020919.4(ALS2):c.1816-7G>A rs763440221
NM_020919.4(ALS2):c.183G>A (p.Glu61=)
NM_020919.4(ALS2):c.1890C>T (p.Asp630=)
NM_020919.4(ALS2):c.189C>T (p.Tyr63=)
NM_020919.4(ALS2):c.1977A>T (p.Pro659=) rs1060504992
NM_020919.4(ALS2):c.1998+11A>G rs2106056364
NM_020919.4(ALS2):c.2028A>G (p.Gly676=) rs1379284072
NM_020919.4(ALS2):c.21-15T>C
NM_020919.4(ALS2):c.2170+15C>T rs1692481779
NM_020919.4(ALS2):c.2170+19T>C rs2106050526
NM_020919.4(ALS2):c.2171-25CAT[3] rs779494576
NM_020919.4(ALS2):c.2171-4A>G rs780648054
NM_020919.4(ALS2):c.2181C>T (p.Gly727=)
NM_020919.4(ALS2):c.2187A>G (p.Thr729=)
NM_020919.4(ALS2):c.2196C>A (p.Val732=)
NM_020919.4(ALS2):c.225G>A (p.Val75=)
NM_020919.4(ALS2):c.2266T>C (p.Leu756=)
NM_020919.4(ALS2):c.234T>C (p.Cys78=)
NM_020919.4(ALS2):c.2351+14C>T
NM_020919.4(ALS2):c.2351+15C>G
NM_020919.4(ALS2):c.2417+13A>C
NM_020919.4(ALS2):c.2417+16C>A
NM_020919.4(ALS2):c.2494A>T (p.Ile832Leu)
NM_020919.4(ALS2):c.2583A>G (p.Ala861=) rs1260262428
NM_020919.4(ALS2):c.2595T>C (p.Tyr865=) rs775628010
NM_020919.4(ALS2):c.261C>T (p.Ala87=)
NM_020919.4(ALS2):c.2712+17G>A
NM_020919.4(ALS2):c.2713-13T>C rs985399860
NM_020919.4(ALS2):c.2713-18A>T
NM_020919.4(ALS2):c.2760C>T (p.Asn920=)
NM_020919.4(ALS2):c.2841+13C>G
NM_020919.4(ALS2):c.2841+19C>G
NM_020919.4(ALS2):c.2850G>A (p.Thr950=)
NM_020919.4(ALS2):c.285T>G (p.Thr95=) rs2106089879
NM_020919.4(ALS2):c.2874G>A (p.Thr958=)
NM_020919.4(ALS2):c.2892G>A (p.Leu964=)
NM_020919.4(ALS2):c.2912+15C>G
NM_020919.4(ALS2):c.2912+16C>G rs1691277696
NM_020919.4(ALS2):c.2912+9G>A rs543664811
NM_020919.4(ALS2):c.2913-13G>A rs367778182
NM_020919.4(ALS2):c.2913-15T>C
NM_020919.4(ALS2):c.2913-17C>A
NM_020919.4(ALS2):c.2925G>A (p.Lys975=)
NM_020919.4(ALS2):c.2979+13T>A rs1001846413
NM_020919.4(ALS2):c.2979+20T>C
NM_020919.4(ALS2):c.2979+7C>G
NM_020919.4(ALS2):c.2979+8del rs1691235468
NM_020919.4(ALS2):c.2980-19C>T
NM_020919.4(ALS2):c.2980-8G>C rs1305718603
NM_020919.4(ALS2):c.3018G>A (p.Gln1006=) rs1574706478
NM_020919.4(ALS2):c.3045C>T (p.Pro1015=)
NM_020919.4(ALS2):c.3051T>C (p.Tyr1017=)
NM_020919.4(ALS2):c.3096C>T (p.Arg1032=)
NM_020919.4(ALS2):c.3237C>A (p.Gly1079=)
NM_020919.4(ALS2):c.3248+12G>A
NM_020919.4(ALS2):c.3249-13T>C
NM_020919.4(ALS2):c.3249-20T>C
NM_020919.4(ALS2):c.3249-4G>A
NM_020919.4(ALS2):c.3249-7A>G
NM_020919.4(ALS2):c.3252T>C (p.Tyr1084=)
NM_020919.4(ALS2):c.3267C>T (p.Ile1089=) rs2106003904
NM_020919.4(ALS2):c.3273C>T (p.Asn1091=) rs770990657
NM_020919.4(ALS2):c.3315A>G (p.Lys1105=) rs2106003724
NM_020919.4(ALS2):c.3347+11A>G
NM_020919.4(ALS2):c.3347+7T>C
NM_020919.4(ALS2):c.3347+8T>C rs766421649
NM_020919.4(ALS2):c.3348-17A>G
NM_020919.4(ALS2):c.336G>A (p.Ala112=)
NM_020919.4(ALS2):c.3431C>T (p.Thr1144Met)
NM_020919.4(ALS2):c.3447T>C (p.Ser1149=) rs2106001103
NM_020919.4(ALS2):c.3512+13_3512+15del rs756485980
NM_020919.4(ALS2):c.3512+19A>G
NM_020919.4(ALS2):c.3512+8A>G
NM_020919.4(ALS2):c.3624+10A>G
NM_020919.4(ALS2):c.3624+12A>G
NM_020919.4(ALS2):c.3624+14_3624+21del
NM_020919.4(ALS2):c.3645C>T (p.Ser1215=)
NM_020919.4(ALS2):c.3699A>G (p.Gly1233=) rs2105998031
NM_020919.4(ALS2):c.3702+17_3702+20del rs751712553
NM_020919.4(ALS2):c.3703-14C>G
NM_020919.4(ALS2):c.3703-16C>T
NM_020919.4(ALS2):c.3703-6A>T rs1574684292
NM_020919.4(ALS2):c.3711G>A (p.Leu1237=) rs2105987447
NM_020919.4(ALS2):c.3804A>G (p.Leu1268=)
NM_020919.4(ALS2):c.3816T>C (p.Asp1272=)
NM_020919.4(ALS2):c.3831A>G (p.Lys1277=)
NM_020919.4(ALS2):c.3836+14G>A rs2105987078
NM_020919.4(ALS2):c.3836+8_3836+11del
NM_020919.4(ALS2):c.3837-7T>C
NM_020919.4(ALS2):c.3870T>C (p.Asp1290=)
NM_020919.4(ALS2):c.3897A>G (p.Glu1299=)
NM_020919.4(ALS2):c.4004+11A>C rs1690334312
NM_020919.4(ALS2):c.4004+18C>T rs771785319
NM_020919.4(ALS2):c.4122+12T>C
NM_020919.4(ALS2):c.4123-14C>G
NM_020919.4(ALS2):c.4123-19T>C
NM_020919.4(ALS2):c.4131C>T (p.Asp1377=) rs1279602015
NM_020919.4(ALS2):c.4146C>G (p.Pro1382=) rs780302685
NM_020919.4(ALS2):c.4191A>T (p.Thr1397=)
NM_020919.4(ALS2):c.4224G>A (p.Leu1408=)
NM_020919.4(ALS2):c.4280+17C>T
NM_020919.4(ALS2):c.4280+19A>G
NM_020919.4(ALS2):c.4281-20T>C
NM_020919.4(ALS2):c.4332T>A (p.Ala1444=) rs1689826544
NM_020919.4(ALS2):c.4365T>G (p.Thr1455=) rs1394019839
NM_020919.4(ALS2):c.4403+15del rs755283897
NM_020919.4(ALS2):c.4403+17G>A rs1689819506
NM_020919.4(ALS2):c.4403+9A>G
NM_020919.4(ALS2):c.4404-5T>C
NM_020919.4(ALS2):c.4425A>G (p.Gly1475=)
NM_020919.4(ALS2):c.4464G>A (p.Pro1488=)
NM_020919.4(ALS2):c.4479T>C (p.Tyr1493=)
NM_020919.4(ALS2):c.4566T>C (p.Phe1522=) rs1214757167
NM_020919.4(ALS2):c.4580+11T>C
NM_020919.4(ALS2):c.4580+17C>A
NM_020919.4(ALS2):c.4580+17C>T rs758954201
NM_020919.4(ALS2):c.4596A>G (p.Ala1532=)
NM_020919.4(ALS2):c.4626+12T>G
NM_020919.4(ALS2):c.4626+7T>C rs1157290648
NM_020919.4(ALS2):c.4627-15C>T
NM_020919.4(ALS2):c.4627-4G>A rs765859367
NM_020919.4(ALS2):c.4689-10T>C rs755629995
NM_020919.4(ALS2):c.4689-7G>A
NM_020919.4(ALS2):c.4725C>T (p.Ile1575=) rs2105963799
NM_020919.4(ALS2):c.4761G>A (p.Leu1587=)
NM_020919.4(ALS2):c.4764G>C (p.Ala1588=) rs35110478
NM_020919.4(ALS2):c.4838+10T>C
NM_020919.4(ALS2):c.4838+13T>C rs377218529
NM_020919.4(ALS2):c.4838+19del rs752516794
NM_020919.4(ALS2):c.4839-11C>T
NM_020919.4(ALS2):c.4839-4G>T
NM_020919.4(ALS2):c.4863A>G (p.Val1621=)
NM_020919.4(ALS2):c.4899G>A (p.Gln1633=)
NM_020919.4(ALS2):c.4914T>G (p.Gly1638=) rs1574653542
NM_020919.4(ALS2):c.492A>G (p.Ala164=)
NM_020919.4(ALS2):c.4935+10G>A rs1041450924
NM_020919.4(ALS2):c.4938A>G (p.Ala1646=) rs1689412209
NM_020919.4(ALS2):c.519A>G (p.Ala173=)
NM_020919.4(ALS2):c.576G>C (p.Pro192=) rs368315644
NM_020919.4(ALS2):c.582G>A (p.Lys194=)
NM_020919.4(ALS2):c.60C>G (p.Val20=)
NM_020919.4(ALS2):c.654A>G (p.Gln218=)
NM_020919.4(ALS2):c.675G>A (p.Leu225=)
NM_020919.4(ALS2):c.690A>G (p.Glu230=) rs1304097208
NM_020919.4(ALS2):c.693A>C (p.Arg231=)
NM_020919.4(ALS2):c.780T>G (p.Gly260=)
NM_020919.4(ALS2):c.786A>G (p.Thr262=)
NM_020919.4(ALS2):c.879T>A (p.Thr293=) rs757197882
NM_020919.4(ALS2):c.882T>C (p.Leu294=)
NM_020919.4(ALS2):c.945C>T (p.Ser315=) rs770056959
NM_020919.4(ALS2):c.960T>C (p.Ser320=) rs2106087780

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