ClinVar Miner

List of variants in gene A2ML1 reported as uncertain significance by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Gene type:
ClinVar version:
Total variants: 92
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HGVS dbSNP gnomAD frequency
NM_144670.6(A2ML1):c.3824C>T (p.Thr1275Ile) rs368114048 0.00016
NM_144670.6(A2ML1):c.565C>T (p.Pro189Ser) rs780009431 0.00015
NM_144670.6(A2ML1):c.1595C>T (p.Pro532Leu) rs373823890 0.00006
NM_144670.6(A2ML1):c.1081-2A>G rs377270924 0.00004
NM_144670.6(A2ML1):c.1378G>A (p.Gly460Ser) rs758716034 0.00004
NM_144670.6(A2ML1):c.1774C>T (p.Arg592Trp) rs748309907 0.00004
NM_144670.6(A2ML1):c.375G>T (p.Gln125His) rs377484849 0.00004
NM_144670.6(A2ML1):c.1387A>C (p.Lys463Gln) rs764536586 0.00003
NM_144670.6(A2ML1):c.1833+10T>C rs753086817 0.00003
NM_144670.6(A2ML1):c.3343C>T (p.Pro1115Ser) rs372562512 0.00003
NM_144670.6(A2ML1):c.653A>G (p.Lys218Arg) rs1253780933 0.00003
NM_144670.6(A2ML1):c.1438G>A (p.Asp480Asn) rs368024371 0.00002
NM_144670.6(A2ML1):c.2010C>A (p.Asp670Glu) rs763091079 0.00002
NM_144670.6(A2ML1):c.2117G>A (p.Gly706Asp) rs772497821 0.00002
NM_144670.6(A2ML1):c.2276C>T (p.Ala759Val) rs774472456 0.00002
NM_144670.6(A2ML1):c.269C>T (p.Thr90Ile) rs369174815 0.00002
NM_144670.6(A2ML1):c.2765-18T>A rs759540195 0.00002
NM_144670.6(A2ML1):c.3105A>G (p.Thr1035=) rs201335448 0.00002
NM_144670.6(A2ML1):c.3933+4A>G rs779680238 0.00002
NM_144670.6(A2ML1):c.409+1G>A rs1454374124 0.00002
NM_144670.6(A2ML1):c.881C>T (p.Ala294Val) rs775772721 0.00002
NM_144670.6(A2ML1):c.1231A>C (p.Thr411Pro) rs371576976 0.00001
NM_144670.6(A2ML1):c.1248+7A>G rs765019682 0.00001
NM_144670.6(A2ML1):c.1370G>A (p.Arg457Gln) rs765417831 0.00001
NM_144670.6(A2ML1):c.1683+6A>G rs370846070 0.00001
NM_144670.6(A2ML1):c.1991C>T (p.Ser664Leu) rs187676229 0.00001
NM_144670.6(A2ML1):c.2238C>G (p.Asn746Lys) rs369633399 0.00001
NM_144670.6(A2ML1):c.2429C>A (p.Ala810Asp) rs778855832 0.00001
NM_144670.6(A2ML1):c.2458A>T (p.Ile820Phe) rs1435627448 0.00001
NM_144670.6(A2ML1):c.2681G>A (p.Ser894Asn) rs754026014 0.00001
NM_144670.6(A2ML1):c.2712+12T>A rs774960083 0.00001
NM_144670.6(A2ML1):c.3495C>G (p.Ile1165Met) rs868320081 0.00001
NM_144670.6(A2ML1):c.3502+14G>C rs1277207408 0.00001
NM_144670.6(A2ML1):c.4221+17C>T rs772852256 0.00001
NM_144670.6(A2ML1):c.4221+2T>C rs959378735 0.00001
NM_144670.6(A2ML1):c.540T>G (p.Ile180Met) rs377551636 0.00001
NM_144670.6(A2ML1):c.62C>T (p.Pro21Leu) rs771087097 0.00001
NM_144670.6(A2ML1):c.844C>A (p.Leu282Ile) rs1482427203 0.00001
NM_144670.6(A2ML1):c.970+13C>T rs748203389 0.00001
NC_000012.11:g.(8998819_9000144)_(9007428_9008104)del
NM_144670.6(A2ML1):c.1021T>A (p.Ser341Thr) rs1277845851
NM_144670.6(A2ML1):c.1022C>A (p.Ser341Ter) rs1943384970
NM_144670.6(A2ML1):c.1248+10G>A
NM_144670.6(A2ML1):c.1249-19_1319dup rs1943546023
NM_144670.6(A2ML1):c.128_224dup (p.His75_Leu76insGluProTrpValGlnTer) rs1942804878
NM_144670.6(A2ML1):c.1298G>A (p.Arg433His) rs376035211
NM_144670.6(A2ML1):c.1423T>A (p.Tyr475Asn)
NM_144670.6(A2ML1):c.1475A>G (p.Tyr492Cys) rs1943556876
NM_144670.6(A2ML1):c.1630G>A (p.Gly544Ser) rs1032646451
NM_144670.6(A2ML1):c.1656C>A (p.Phe552Leu)
NM_144670.6(A2ML1):c.1684-47_1724dup rs1943731808
NM_144670.6(A2ML1):c.1730T>G (p.Val577Gly) rs917780860
NM_144670.6(A2ML1):c.1750G>A (p.Ala584Thr) rs1943737655
NM_144670.6(A2ML1):c.1775G>T (p.Arg592Leu) rs200673370
NM_144670.6(A2ML1):c.1789_1790del (p.Ser597fs) rs779516620
NM_144670.6(A2ML1):c.1828C>G (p.Arg610Gly) rs375392265
NM_144670.6(A2ML1):c.1834-1G>T rs1943786459
NM_144670.6(A2ML1):c.1834-20_1887dup rs1943785430
NM_144670.6(A2ML1):c.1955G>A (p.Gly652Glu)
NM_144670.6(A2ML1):c.2032G>A (p.Val678Met) rs148198269
NM_144670.6(A2ML1):c.2242G>A (p.Gly748Arg) rs2136878186
NM_144670.6(A2ML1):c.2257C>T (p.His753Tyr)
NM_144670.6(A2ML1):c.2366C>T (p.Pro789Leu) rs1943905141
NM_144670.6(A2ML1):c.2463+13G>A rs151032368
NM_144670.6(A2ML1):c.2707G>A (p.Val903Ile) rs1416944345
NM_144670.6(A2ML1):c.2716G>A (p.Glu906Lys)
NM_144670.6(A2ML1):c.2752C>A (p.Leu918Met) rs1944005605
NM_144670.6(A2ML1):c.290_384dup (p.Pro129delinsGlyCysArgGluLeuGluIleThrSerAlaLeuArgArgArgLysArgPheTer) rs1942828214
NM_144670.6(A2ML1):c.29T>A (p.Leu10Ter) rs2136691291
NM_144670.6(A2ML1):c.3007G>C (p.Val1003Leu) rs2136913749
NM_144670.6(A2ML1):c.3108-11T>C
NM_144670.6(A2ML1):c.3264+4C>T
NM_144670.6(A2ML1):c.3296C>T (p.Ala1099Val) rs751968824
NM_144670.6(A2ML1):c.3434C>A (p.Ser1145Tyr)
NM_144670.6(A2ML1):c.3434C>T (p.Ser1145Phe) rs768331924
NM_144670.6(A2ML1):c.3718-16_3791dup rs1944470043
NM_144670.6(A2ML1):c.3718-6C>T rs1944470448
NM_144670.6(A2ML1):c.3886G>A (p.Gly1296Arg) rs760857113
NM_144670.6(A2ML1):c.3971T>C (p.Met1324Thr)
NM_144670.6(A2ML1):c.3971T>G (p.Met1324Arg) rs1341976356
NM_144670.6(A2ML1):c.4061+16G>A rs200962359
NM_144670.6(A2ML1):c.4061+1G>C rs202067416
NM_144670.6(A2ML1):c.4088A>G (p.Asn1363Ser)
NM_144670.6(A2ML1):c.409+13T>C
NM_144670.6(A2ML1):c.4105G>T (p.Val1369Leu) rs755052089
NM_144670.6(A2ML1):c.44C>A (p.Ala15Asp) rs1942780601
NM_144670.6(A2ML1):c.462+16G>A
NM_144670.6(A2ML1):c.462+2T>C rs201877710
NM_144670.6(A2ML1):c.479T>C (p.Leu160Pro) rs769954501
NM_144670.6(A2ML1):c.52G>A (p.Glu18Lys)
NM_144670.6(A2ML1):c.63-6del rs1463624612
NM_144670.6(A2ML1):c.941T>G (p.Ile314Ser) rs889804273

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