ClinVar Miner

List of variants reported as uncertain significance for amyotrophic lateral sclerosis type 9 by Illumina Laboratory Services, Illumina

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 13
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HGVS dbSNP gnomAD frequency
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.62C>T (p.Pro21Leu) rs773237991 0.00002
NM_002937.5(RNASE4):c.-167A>G rs374332721 0.00002
NM_001097577.3(ANG):c.38T>C (p.Val13Ala) rs200240901 0.00001
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_001145.4(ANG):c.-381C>T rs886050396
NM_001145.4(ANG):c.-542G>A rs1886313088
NM_001145.4(ANG):c.-594C>A rs886050394
NM_002937.5(RNASE4):c.-114G>C rs886050397

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