ClinVar Miner

List of variants in gene A2ML1 reported by Fulgent Genetics, Fulgent Genetics

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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_144670.6(A2ML1):c.3108-3dup rs142794811 0.00828
NM_144670.6(A2ML1):c.*1+12G>A rs115808815 0.00398
NM_144670.6(A2ML1):c.9T>A (p.Ala3=) rs151044194 0.00177
NM_144670.6(A2ML1):c.196C>T (p.Leu66=) rs185519272 0.00172
NM_144670.6(A2ML1):c.1937T>C (p.Ile646Thr) rs150488553 0.00158
NM_144670.6(A2ML1):c.2463+13G>C rs151032368 0.00123
NM_144670.6(A2ML1):c.3824C>T (p.Thr1275Ile) rs368114048 0.00016
NM_144670.6(A2ML1):c.3395C>T (p.Thr1132Ile) rs201093464 0.00015
NM_144670.6(A2ML1):c.1945A>G (p.Met649Val) rs762406949 0.00012
NM_144670.6(A2ML1):c.2464G>A (p.Val822Ile) rs201752325 0.00012
NM_144670.6(A2ML1):c.2014T>C (p.Phe672Leu) rs376707182 0.00010
NM_144670.6(A2ML1):c.2834A>T (p.Tyr945Phe) rs375843284 0.00010
NM_144670.6(A2ML1):c.375G>T (p.Gln125His) rs377484849 0.00004
NM_144670.6(A2ML1):c.89G>A (p.Arg30Gln) rs756640163 0.00004
NM_144670.6(A2ML1):c.2188C>T (p.Arg730Cys) rs753349449 0.00002
NM_144670.6(A2ML1):c.2822C>T (p.Ser941Leu) rs780461710 0.00002
NM_144670.6(A2ML1):c.1918G>A (p.Asp640Asn) rs483352823 0.00001
NM_144670.6(A2ML1):c.4334C>A (p.Ala1445Glu) rs200447138 0.00001
NM_144670.6(A2ML1):c.1476+8C>T rs75676135
NM_144670.6(A2ML1):c.2657G>T (p.Gly886Val) rs2136894252
NM_144670.6(A2ML1):c.289C>T (p.Arg97Trp) rs199701571

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