ClinVar Miner

List of variants studied for Amyotrophic lateral sclerosis type 9 by Illumina Laboratory Services, Illumina

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Total variants: 34
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HGVS dbSNP gnomAD frequency
NM_001097577.3(ANG):c.330T>G (p.Gly110=) rs11701 0.13321
NM_001145.4(ANG):c.-332C>A rs28589501 0.10842
NM_001145.4(ANG):c.-530T>C rs117053048 0.02544
NM_001145.4(ANG):c.-579G>C rs117466368 0.02542
NM_001145.4(ANG):c.-401G>T rs45591635 0.02505
NM_001145.4(ANG):c.-41T>C rs117978329 0.02505
NM_001145.4(ANG):c.-534C>T rs117787610 0.01793
NM_001097577.3(ANG):c.363A>T (p.Thr121=) rs2228653 0.01278
NM_001145.4(ANG):c.-237A>C rs45525731 0.00820
NM_001097577.3(ANG):c.250A>G (p.Lys84Glu) rs17560 0.00401
NM_001145.4(ANG):c.-383C>G rs113950902 0.00124
NM_001097577.3(ANG):c.*139A>G rs542458460 0.00101
NM_001097577.3(ANG):c.122A>T (p.Lys41Ile) rs121909536 0.00094
NM_001145.4(ANG):c.-423C>T rs149147430 0.00078
NM_001097577.3(ANG):c.208A>G (p.Ile70Val) rs121909541 0.00072
NM_001145.4(ANG):c.-19+11A>C rs184963428 0.00033
NM_001145.4(ANG):c.-168A>G rs374332721 0.00028
NM_001097577.3(ANG):c.3G>A (p.Met1Ile) rs201068740 0.00020
NM_001145.4(ANG):c.-524G>A rs886050395 0.00020
NM_001097577.3(ANG):c.365C>T (p.Ala122Val) rs374766597 0.00003
NM_001097577.3(ANG):c.441G>A (p.Pro147=) rs759928848 0.00002
NM_001097577.3(ANG):c.62C>T (p.Pro21Leu) rs773237991 0.00002
NM_001097577.3(ANG):c.38T>C (p.Val13Ala) rs200240901 0.00001
NM_001097577.3(ANG):c.*10C>T rs778543068
NM_001097577.3(ANG):c.*81A>C rs550007170
NM_001097577.3(ANG):c.-18-4G>A rs373669465
NM_001097577.3(ANG):c.224G>A (p.Arg75His) rs146485834
NM_001097577.3(ANG):c.368G>A (p.Gly123Glu) rs535311762
NM_001097577.3(ANG):c.62C>A (p.Pro21Gln) rs773237991
NM_001097577.3(ANG):c.99C>T (p.Phe33=) rs563139057
NM_001145.4(ANG):c.-115G>C rs886050397
NM_001145.4(ANG):c.-381C>T rs886050396
NM_001145.4(ANG):c.-542G>A rs1886313088
NM_001145.4(ANG):c.-594C>A rs886050394

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