ClinVar Miner

List of variants in gene ALS2 studied for Inborn genetic diseases

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Total variants: 43
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HGVS dbSNP gnomAD frequency
NM_020919.4(ALS2):c.4964A>C (p.Lys1655Thr) rs199751225 0.00046
NM_020919.4(ALS2):c.1832G>C (p.Gly611Ala) rs201335536 0.00043
NM_020919.4(ALS2):c.1641G>A (p.Arg547=) rs34122078 0.00038
NM_020919.4(ALS2):c.3656C>A (p.Thr1219Asn) rs372936145 0.00016
NM_020919.4(ALS2):c.358G>T (p.Ala120Ser) rs202084736 0.00014
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.3223A>G (p.Met1075Val) rs542644790 0.00006
NM_020919.4(ALS2):c.4345G>A (p.Glu1449Lys) rs779841299 0.00006
NM_020919.4(ALS2):c.3658A>G (p.Ile1220Val) rs370591665 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.1783G>A (p.Asp595Asn) rs199603159 0.00004
NM_020919.4(ALS2):c.3062G>A (p.Ser1021Asn) rs187637699 0.00004
NM_020919.4(ALS2):c.3319G>A (p.Gly1107Arg) rs757704778 0.00004
NM_020919.4(ALS2):c.1008A>G (p.Ile336Met) rs758265576 0.00002
NM_020919.4(ALS2):c.3280A>G (p.Met1094Val) rs772708880 0.00002
NM_020919.4(ALS2):c.3415C>T (p.Arg1139Ter) rs767350733 0.00002
NM_020919.4(ALS2):c.88A>G (p.Ile30Val) rs199947290 0.00002
NM_020919.4(ALS2):c.1049G>A (p.Arg350Gln) rs763352024 0.00001
NM_020919.4(ALS2):c.2108G>C (p.Arg703Thr) rs770565853 0.00001
NM_020919.4(ALS2):c.2876T>C (p.Leu959Pro) rs1178248335 0.00001
NM_020919.4(ALS2):c.1000A>G (p.Arg334Gly)
NM_020919.4(ALS2):c.1009C>A (p.Pro337Thr)
NM_020919.4(ALS2):c.1148G>T (p.Ser383Ile)
NM_020919.4(ALS2):c.1160C>T (p.Thr387Ile)
NM_020919.4(ALS2):c.1289G>A (p.Cys430Tyr)
NM_020919.4(ALS2):c.142C>T (p.Leu48Phe)
NM_020919.4(ALS2):c.2329C>G (p.Leu777Val)
NM_020919.4(ALS2):c.2464G>T (p.Val822Leu)
NM_020919.4(ALS2):c.2998A>G (p.Ile1000Val)
NM_020919.4(ALS2):c.3047C>T (p.Pro1016Leu) rs776807292
NM_020919.4(ALS2):c.3163T>G (p.Ser1055Ala)
NM_020919.4(ALS2):c.3937G>A (p.Glu1313Lys)
NM_020919.4(ALS2):c.4096G>T (p.Asp1366Tyr)
NM_020919.4(ALS2):c.4227G>T (p.Gln1409His)
NM_020919.4(ALS2):c.4897C>T (p.Gln1633Ter) rs797044934
NM_020919.4(ALS2):c.4946A>C (p.Tyr1649Ser)
NM_020919.4(ALS2):c.605T>C (p.Val202Ala)
NM_020919.4(ALS2):c.661C>T (p.Pro221Ser)
NM_020919.4(ALS2):c.752T>C (p.Ile251Thr)
NM_020919.4(ALS2):c.811C>T (p.His271Tyr)
NM_020919.4(ALS2):c.878C>G (p.Thr293Ser) rs537187775

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