ClinVar Miner

List of variants in gene combination ANG, EGILA, RNASE4 reported as uncertain significance for Amyotrophic lateral sclerosis type 9

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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.3G>A (p.Met1Ile) rs201068740 0.00020
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.433C>T (p.Arg145Cys) rs565444731 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

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