ClinVar Miner

List of variants reported as pathogenic for amyotrophic lateral sclerosis type 9 by OMIM

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_001097577.3(ANG):c.122A>T (p.Lys41Ile) rs121909536 0.00091
NM_001097577.3(ANG):c.208A>G (p.Ile70Val) rs121909541 0.00073
NM_001097577.3(ANG):c.407C>T (p.Pro136Leu) rs121909543 0.00002
NM_001097577.3(ANG):c.155G>A (p.Ser52Asn) rs121909542 0.00001
NM_001097577.3(ANG):c.107A>T (p.Gln36Leu) rs121909535
NM_001097577.3(ANG):c.121A>G (p.Lys41Glu) rs121909537
NM_001097577.3(ANG):c.164G>A (p.Arg55Lys) rs121909538
NM_001097577.3(ANG):c.189C>G (p.Cys63Trp) rs121909539
NM_001097577.3(ANG):c.191A>T (p.Lys64Ile) rs121909540
NM_001097577.3(ANG):c.409G>A (p.Val137Ile) rs121909544

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