ClinVar Miner

Variants in gene A2ML1 with conflicting interpretations "benign" and "likely benign"

Submission 1 (benign) minimum review status: Submission 1 (benign) method:
Submission 2 (likely benign) minimum review status: Submission 2 (likely benign) method:
Gene type:
ClinVar version:
Total variants with conflicting interpretations: 59
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HGVS dbSNP gnomAD frequency
NM_144670.6(A2ML1):c.3364C>T (p.Arg1122Trp) rs1860967 0.33038
NM_144670.6(A2ML1):c.3569C>T (p.Ala1190Val) rs73040625 0.05426
NM_144670.6(A2ML1):c.2868C>T (p.Ala956=) rs56179521 0.03852
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.2029-5A>C rs145965024 0.00216
NM_144670.6(A2ML1):c.158C>G (p.Thr53Arg) rs79149293 0.00207
NM_144670.6(A2ML1):c.1937T>C (p.Ile646Thr) rs150488553 0.00158
NM_144670.6(A2ML1):c.3903G>C (p.Glu1301Asp) rs77431272 0.00138
NM_144670.6(A2ML1):c.2560C>T (p.His854Tyr) rs200763256 0.00126
NM_144670.6(A2ML1):c.2173G>A (p.Glu725Lys) rs192221816 0.00123
NM_144670.6(A2ML1):c.4061+1G>A rs202067416 0.00108
NM_144670.6(A2ML1):c.2249A>C (p.Glu750Ala) rs200618482 0.00080
NM_144670.6(A2ML1):c.3269G>A (p.Gly1090Asp) rs200964353 0.00080
NM_144670.6(A2ML1):c.3878A>G (p.Asn1293Ser) rs201478459 0.00061
NM_144670.6(A2ML1):c.2924T>C (p.Met975Thr) rs202179061 0.00056
NM_144670.6(A2ML1):c.174_175dup (p.Lys59fs) rs745711489 0.00051
NM_144670.6(A2ML1):c.2197T>C (p.Phe733Leu) rs117213221 0.00051
NM_144670.6(A2ML1):c.2029-8C>T rs7298954 0.00048
NM_144670.6(A2ML1):c.1237G>A (p.Val413Ile) rs185181365 0.00047
NM_144670.6(A2ML1):c.105C>T (p.Ser35=) rs201185025 0.00046
NM_144670.6(A2ML1):c.2749T>C (p.Leu917=) rs200462659 0.00044
NM_144670.6(A2ML1):c.3967A>C (p.Asn1323His) rs200176373 0.00043
NM_144670.6(A2ML1):c.3003G>A (p.Arg1001=) rs200269317 0.00041
NM_144670.6(A2ML1):c.4076G>A (p.Arg1359His) rs200744656 0.00041
NM_144670.6(A2ML1):c.357G>C (p.Gly119=) rs200671971 0.00036
NM_144670.6(A2ML1):c.4233C>T (p.Asn1411=) rs371033800 0.00036
NM_144670.6(A2ML1):c.63-4A>G rs200007710 0.00036
NM_144670.6(A2ML1):c.2841G>A (p.Thr947=) rs201562692 0.00029
NM_144670.6(A2ML1):c.1602G>C (p.Leu534=) rs146213855 0.00028
NM_144670.6(A2ML1):c.2026C>T (p.Arg676Trp) rs200503836 0.00026
NM_144670.6(A2ML1):c.814C>T (p.Arg272Trp) rs201215628 0.00026
NM_144670.6(A2ML1):c.728+13G>A rs373095814 0.00025
NM_144670.6(A2ML1):c.1477T>C (p.Leu493=) rs200088686 0.00023
NM_144670.6(A2ML1):c.4018C>A (p.Gln1340Lys) rs182743597 0.00023
NM_144670.6(A2ML1):c.1328G>A (p.Arg443Gln) rs142219499 0.00022
NM_144670.6(A2ML1):c.887T>C (p.Val296Ala) rs192888493 0.00019
NM_144670.6(A2ML1):c.1368C>T (p.His456=) rs200983183 0.00018
NM_144670.6(A2ML1):c.2405G>A (p.Arg802His) rs201562272 0.00013
NM_144670.6(A2ML1):c.4261C>T (p.Gln1421Ter) rs182070540 0.00009
NM_144670.6(A2ML1):c.855+9A>G rs200524501 0.00009
NM_144670.6(A2ML1):c.1477-13T>C rs778863549 0.00007
NM_144670.6(A2ML1):c.3516C>T (p.Tyr1172=) rs747281942 0.00006
NM_144670.6(A2ML1):c.4061+11_4061+12del rs767089812 0.00006
NM_144670.6(A2ML1):c.1476+15C>T rs759159005 0.00004
NM_144670.6(A2ML1):c.3962C>T (p.Pro1321Leu) rs190379856 0.00004
NM_144670.6(A2ML1):c.21A>G (p.Leu7=) rs529431349 0.00003
NM_144670.6(A2ML1):c.3339+20G>A rs758617412 0.00003
NM_144670.6(A2ML1):c.1538-13T>A rs765050311 0.00001
NM_144670.6(A2ML1):c.2676C>T (p.Gly892=) rs188045880 0.00001
NM_144670.6(A2ML1):c.3933+14C>T rs200874703 0.00001
NM_144670.6(A2ML1):c.483+6C>T rs754169968 0.00001
NM_144670.6(A2ML1):c.1775G>A (p.Arg592Gln) rs200673370
NM_144670.6(A2ML1):c.2145del (p.Phe715fs) rs759217676
NM_144670.6(A2ML1):c.289C>G (p.Arg97Gly) rs199701571
NM_144670.6(A2ML1):c.3124A>G (p.Thr1042Ala) rs565930773
NM_144670.6(A2ML1):c.3381G>A (p.Ser1127=)
NM_144670.6(A2ML1):c.462+19A>G
NM_144670.6(A2ML1):c.462+9GGA[2] rs750639846

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