ClinVar Miner

List of variants in gene ANG, EGILA, RNASE4 studied for amyotrophic lateral sclerosis type 9

Included ClinVar conditions (1):
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Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_001097577.3(ANG):c.330T>G (p.Gly110=) rs11701 0.13321
NM_001097577.3(ANG):c.363A>T (p.Thr121=) rs2228653 0.01278
NM_001097577.3(ANG):c.250A>G (p.Lys84Glu) rs17560 0.00410
NM_001097577.3(ANG):c.*139A>G rs542458460 0.00108
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.407C>T (p.Pro136Leu) rs121909543 0.00002
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.155G>A (p.Ser52Asn) rs121909542 0.00001
NM_001097577.3(ANG):c.365C>T (p.Ala122Val) rs374766597 0.00001
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.*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.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.224G>A (p.Arg75His) rs146485834
NM_001097577.3(ANG):c.368G>A (p.Gly123Glu) rs535311762
NM_001097577.3(ANG):c.409G>A (p.Val137Ile) rs121909544
NM_001097577.3(ANG):c.62C>A (p.Pro21Gln) rs773237991
NM_001097577.3(ANG):c.99C>T (p.Phe33=) rs563139057

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