ClinVar Miner

List of variants in gene ALS2 reported by CeGaT Center for Human Genetics Tuebingen

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Total variants: 35
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HGVS dbSNP gnomAD frequency
NM_020919.4(ALS2):c.4119A>G (p.Ile1373Met) rs61757691 0.00269
NM_020919.4(ALS2):c.2241C>T (p.Tyr747=) rs3219160 0.00208
NM_020919.4(ALS2):c.3309T>C (p.His1103=) rs201920363 0.00184
NM_020919.4(ALS2):c.1816-8C>T rs185911369 0.00165
NM_020919.4(ALS2):c.3741T>G (p.Gly1247=) rs3219166 0.00112
NM_020919.4(ALS2):c.1115C>G (p.Pro372Arg) rs190369242 0.00100
NM_020919.4(ALS2):c.3517G>A (p.Glu1173Lys) rs41309046 0.00090
NM_020919.4(ALS2):c.4416G>A (p.Thr1472=) rs200202953 0.00056
NM_020919.4(ALS2):c.1677A>G (p.Lys559=) rs367640165 0.00026
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.3594C>T (p.Tyr1198=) rs781454879 0.00004
NM_020919.4(ALS2):c.1048C>T (p.Arg350Trp) rs769268310 0.00003
NM_020919.4(ALS2):c.313G>A (p.Ala105Thr) rs760204583 0.00003
NM_020919.4(ALS2):c.1151C>T (p.Pro384Leu) rs1216448093 0.00002
NM_020919.4(ALS2):c.1283C>A (p.Thr428Asn) rs886055454 0.00002
NM_020919.4(ALS2):c.88A>G (p.Ile30Val) rs199947290 0.00002
NM_020919.4(ALS2):c.2088C>T (p.His696=) rs762894364 0.00001
NM_020919.4(ALS2):c.2171-7G>A rs376270303 0.00001
NM_020919.4(ALS2):c.2737C>T (p.Arg913Ter) rs371140239 0.00001
NM_020919.4(ALS2):c.2856T>C (p.His952=) rs1343812559 0.00001
NM_020919.4(ALS2):c.3158G>A (p.Trp1053Ter) rs1064797281 0.00001
NM_020919.4(ALS2):c.4451G>A (p.Arg1484Gln) rs772543276 0.00001
NM_020919.4(ALS2):c.1640+1G>A rs2106074229
NM_020919.4(ALS2):c.2500A>C (p.Asn834His) rs1057519209
NM_020919.4(ALS2):c.2528G>T (p.Arg843Leu) rs368315489
NM_020919.4(ALS2):c.2700C>G (p.Pro900=)
NM_020919.4(ALS2):c.281T>G (p.Ile94Ser) rs780766554
NM_020919.4(ALS2):c.2979+5G>A rs1553506071
NM_020919.4(ALS2):c.3249-6T>G rs757393391
NM_020919.4(ALS2):c.3597_3599del (p.Glu1199_Gly1200delinsAsp) rs1064797280
NM_020919.4(ALS2):c.470G>A (p.Cys157Tyr) rs121908138
NM_020919.4(ALS2):c.576G>C (p.Pro192=) rs368315644
NM_020919.4(ALS2):c.596C>T (p.Ala199Val)
NM_020919.4(ALS2):c.628G>T (p.Ala210Ser) rs200372769

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