ClinVar Miner

List of variants in gene A2ML1 reported as likely benign by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 91
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HGVS dbSNP gnomAD frequency
NM_144670.6(A2ML1):c.1538-212_1538-208del rs1565475723 0.01889
NM_144670.6(A2ML1):c.1834-202G>A rs7138661 0.01661
NM_144670.6(A2ML1):c.1538-198del rs1565475803 0.01532
NM_144670.6(A2ML1):c.2234+199T>C rs7957548 0.01327
NM_144670.6(A2ML1):c.4222-318C>T rs139876021 0.01214
NM_144670.6(A2ML1):c.462+139G>A rs75265748 0.01209
NM_144670.6(A2ML1):c.2848+40G>T rs79250113 0.01068
NM_144670.6(A2ML1):c.1684-315C>G rs763985998 0.00900
NM_144670.6(A2ML1):c.1538-208_1538-188del rs745849727 0.00838
NM_144670.6(A2ML1):c.462+190G>A rs186047245 0.00803
NM_144670.6(A2ML1):c.246+139A>G rs79649806 0.00796
NM_144670.6(A2ML1):c.4061+80T>G rs79855890 0.00787
NM_144670.6(A2ML1):c.2590+116T>C rs112238175 0.00762
NM_144670.6(A2ML1):c.1538-193del rs376508255 0.00735
NM_144670.6(A2ML1):c.643+189T>A rs142881050 0.00694
NM_144670.6(A2ML1):c.484-179A>T rs73037002 0.00685
NM_144670.6(A2ML1):c.484-181T>C rs73037001 0.00643
NM_144670.6(A2ML1):c.1538-193_1538-188del rs1565475837 0.00637
NM_144670.6(A2ML1):c.644-206G>T rs73038703 0.00619
NM_144670.6(A2ML1):c.246+149A>G rs141691361 0.00585
NM_144670.6(A2ML1):c.1249-305A>C rs146519959 0.00578
NM_144670.6(A2ML1):c.2765-299G>T rs113636807 0.00570
NM_144670.6(A2ML1):c.855+212G>T rs111993047 0.00526
NM_144670.6(A2ML1):c.728+206G>A rs113230784 0.00522
NM_144670.6(A2ML1):c.2119+56T>C rs115248347 0.00441
NM_144670.6(A2ML1):c.2849-162T>C rs183422479 0.00431
NM_144670.6(A2ML1):c.644-286C>T rs149343106 0.00367
NM_144670.6(A2ML1):c.4222-348G>A rs184491762 0.00362
NM_144670.6(A2ML1):c.462+131G>A rs112267835 0.00360
NM_144670.6(A2ML1):c.462+29G>A rs141350563 0.00360
NM_144670.6(A2ML1):c.1080+143A>G rs148648085 0.00337
NM_144670.6(A2ML1):c.1248+29A>T rs139302523 0.00334
NC_000012.12:g.8822235C>T rs141688347 0.00281
NM_144670.6(A2ML1):c.1538-208T>A rs781212837 0.00230
NM_144670.6(A2ML1):c.855+34G>A rs113013902 0.00177
NM_144670.6(A2ML1):c.2590+24G>A rs183811321 0.00146
NM_144670.6(A2ML1):c.3878A>G (p.Asn1293Ser) rs201478459 0.00061
NM_144670.6(A2ML1):c.2120-36T>C rs201335724 0.00046
NM_144670.6(A2ML1):c.3003G>A (p.Arg1001=) rs200269317 0.00041
NM_144670.6(A2ML1):c.1477-251A>G rs574103510 0.00036
NM_144670.6(A2ML1):c.4233C>T (p.Asn1411=) rs371033800 0.00036
NM_144670.6(A2ML1):c.1477T>C (p.Leu493=) rs200088686 0.00023
NM_144670.6(A2ML1):c.1368C>T (p.His456=) rs200983183 0.00018
NM_144670.6(A2ML1):c.1066C>T (p.Pro356Ser) rs753186530 0.00016
NM_144670.6(A2ML1):c.1236C>T (p.Asp412=) rs375780803 0.00011
NM_144670.6(A2ML1):c.827C>G (p.Pro276Arg) rs201979319 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.4061+11_4061+12del rs767089812 0.00006
NM_144670.6(A2ML1):c.692C>T (p.Thr231Met) rs202211381 0.00006
NM_144670.6(A2ML1):c.1440T>C (p.Asp480=) rs764291805 0.00004
NM_144670.6(A2ML1):c.3384C>G (p.Ala1128=) rs773681065 0.00003
NM_144670.6(A2ML1):c.1477-299G>T rs143808943 0.00002
NM_144670.6(A2ML1):c.2176G>T (p.Asp726Tyr) rs771684169 0.00002
NM_144670.6(A2ML1):c.3503-3T>C rs748270792 0.00002
NM_144670.6(A2ML1):c.1249-35C>T rs370213211 0.00001
NM_144670.6(A2ML1):c.1683+6A>G rs370846070 0.00001
NM_144670.6(A2ML1):c.2119+9C>T rs1428382436 0.00001
NM_144670.6(A2ML1):c.2676C>T (p.Gly892=) rs188045880 0.00001
NM_144670.6(A2ML1):c.2976G>T (p.Gly992=) rs1944100639 0.00001
NM_144670.6(A2ML1):c.3247C>T (p.Leu1083Phe) rs371934378 0.00001
NM_144670.6(A2ML1):c.3495C>G (p.Ile1165Met) rs868320081 0.00001
NM_144670.6(A2ML1):c.3897G>A (p.Thr1299=) rs1057523927 0.00001
NM_144670.6(A2ML1):c.976G>T (p.Glu326Ter) rs1007463257 0.00001
NM_144670.5(A2ML1):c.-50C>G rs781435396
NM_144670.6(A2ML1):c.*1+119G>T rs115482939
NM_144670.6(A2ML1):c.-16T>C rs369625679
NM_144670.6(A2ML1):c.1476+307G>A rs116469747
NM_144670.6(A2ML1):c.1538-203T>A rs1481159356
NM_144670.6(A2ML1):c.1538-212_1538-184del rs1464911031
NM_144670.6(A2ML1):c.1538-212_1538-185del rs1435919560
NM_144670.6(A2ML1):c.1538-217_1538-216insTAAATAAAT rs60340954
NM_144670.6(A2ML1):c.1569C>A (p.Thr523=) rs1455152222
NM_144670.6(A2ML1):c.159G>A (p.Thr53=) rs767370461
NM_144670.6(A2ML1):c.1683+270G>T rs116128689
NM_144670.6(A2ML1):c.1684-286_1684-285dup rs569093906
NM_144670.6(A2ML1):c.1684-288_1684-285del rs569093906
NM_144670.6(A2ML1):c.1775G>T (p.Arg592Leu) rs200673370
NM_144670.6(A2ML1):c.1833+305dup rs11312111
NM_144670.6(A2ML1):c.2145del (p.Phe715fs) rs759217676
NM_144670.6(A2ML1):c.2712+16del rs1555113735
NM_144670.6(A2ML1):c.2764+20del rs764632191
NM_144670.6(A2ML1):c.2848+106A>C rs112974204
NM_144670.6(A2ML1):c.3717+279C>T rs529270444
NM_144670.6(A2ML1):c.410-52_410-51del rs778132993
NM_144670.6(A2ML1):c.410-52_410-51dup rs778132993
NM_144670.6(A2ML1):c.644-222_644-221del rs753902128
NM_144670.6(A2ML1):c.855+343del rs151300022
NM_144670.6(A2ML1):c.861C>T (p.Asp287=) rs61921916
NM_144670.6(A2ML1):c.970+318C>T rs7969994
NM_144670.6(A2ML1):c.971-211G>A rs56766736

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