ClinVar Miner

List of variants in gene A2ML1 reported by CeGaT Center for Human Genetics Tuebingen

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Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_144670.6(A2ML1):c.483+7G>A rs73037000 0.00640
NM_144670.6(A2ML1):c.3252C>T (p.His1084=) rs61745125 0.00490
NM_144670.6(A2ML1):c.1050T>C (p.Phe350=) rs201247776 0.00256
NM_144670.6(A2ML1):c.2249A>C (p.Glu750Ala) rs200618482 0.00080
NM_144670.6(A2ML1):c.1237G>A (p.Val413Ile) rs185181365 0.00047
NM_144670.6(A2ML1):c.357G>C (p.Gly119=) rs200671971 0.00036
NM_144670.6(A2ML1):c.2841G>A (p.Thr947=) rs201562692 0.00029
NM_144670.6(A2ML1):c.814C>T (p.Arg272Trp) rs201215628 0.00026
NM_144670.6(A2ML1):c.1477T>C (p.Leu493=) rs200088686 0.00023
NM_144670.6(A2ML1):c.2405G>A (p.Arg802His) rs201562272 0.00013
NM_144670.6(A2ML1):c.2464G>A (p.Val822Ile) rs201752325 0.00012
NM_144670.6(A2ML1):c.2259C>T (p.His753=) rs747555996 0.00004
NM_144670.6(A2ML1):c.4180G>T (p.Val1394Phe) rs756796720 0.00004
NM_144670.6(A2ML1):c.2310T>C (p.Thr770=) rs370481255 0.00002
NM_144670.6(A2ML1):c.881C>T (p.Ala294Val) rs775772721 0.00002
NM_144670.6(A2ML1):c.1201T>C (p.Phe401Leu) rs769029517 0.00001
NM_144670.6(A2ML1):c.4000G>C (p.Gly1334Arg) rs1052149878 0.00001
NM_144670.6(A2ML1):c.1394G>A (p.Gly465Asp) rs757576013
NM_144670.6(A2ML1):c.2342C>T (p.Thr781Ile) rs1482681901
NM_144670.6(A2ML1):c.2956C>T (p.Gln986Ter)
NM_144670.6(A2ML1):c.3393G>A (p.Thr1131=)
NM_144670.6(A2ML1):c.462+9GGA[2] rs750639846
NM_144670.6(A2ML1):c.952G>A (p.Val318Ile)

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