ClinVar Miner

List of variants in gene KANSL1 reported as benign by GeneDx

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Gene type:
ClinVar version:
Total variants: 127
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HGVS dbSNP gnomAD frequency
NM_015443.4(KANSL1):c.-90+8C>T rs72836333 0.35522
NM_015443.4(KANSL1):c.2724+99G>C rs4597358 0.23538
NM_015443.4(KANSL1):c.2837+175C>T rs7350980 0.20860
NM_015443.4(KANSL1):c.2203+118A>C rs7221390 0.20843
NM_015443.4(KANSL1):c.1011C>G (p.Ser337=) rs2240758 0.16502
NM_015443.4(KANSL1):c.-89-202C>T rs2532270 0.14596
NM_015443.4(KANSL1):c.1289+179C>T rs2532271 0.14583
NM_015443.4(KANSL1):c.696C>T (p.Ser232=) rs1881194 0.14580
NM_015443.4(KANSL1):c.1432-80C>T rs17576200 0.14483
NM_015443.4(KANSL1):c.2541+174C>T rs12150542 0.14480
NM_015443.4(KANSL1):c.1653-54A>G rs62060798 0.14476
NM_015443.4(KANSL1):c.1533+112G>A rs77925835 0.14472
NM_015443.4(KANSL1):c.2152T>C (p.Ser718Pro) rs34043286 0.14472
NM_015443.4(KANSL1):c.1653-289G>T rs17575850 0.14471
NM_015443.4(KANSL1):c.3090+165C>T rs55881134 0.14471
NM_015443.4(KANSL1):c.2580T>C (p.Phe860=) rs17574604 0.14470
NM_015443.4(KANSL1):c.1653-247T>C rs17575822 0.14469
NM_015443.4(KANSL1):c.2392+155C>T rs41437445 0.14464
NM_015443.4(KANSL1):c.1290-324G>A rs80020809 0.14397
NM_015443.4(KANSL1):c.1432-142C>T rs62060852 0.14356
NM_015443.4(KANSL1):c.741A>G (p.Arg247=) rs1881193 0.12760
NM_015443.4(KANSL1):c.-89-23T>C rs2696662 0.12667
NM_015443.4(KANSL1):c.-90+225A>T rs11079733 0.12667
NM_015443.4(KANSL1):c.-90+130T>A rs2696633 0.12666
NM_015443.4(KANSL1):c.1534-340A>G rs75641221 0.12617
NM_015443.4(KANSL1):c.1653-153C>A rs62060799 0.12597
NM_015443.4(KANSL1):c.2542-176G>T rs17653162 0.12596
NM_015443.4(KANSL1):c.2021-147T>C rs10514897 0.12593
NM_015443.4(KANSL1):c.1533+176A>C rs111913701 0.12592
NM_015443.4(KANSL1):c.3091-119G>C rs17574425 0.12591
NM_015443.4(KANSL1):c.1533+252G>T rs77138434 0.12587
NM_015443.4(KANSL1):c.2392+81A>G rs62062136 0.12586
NM_015443.4(KANSL1):c.2838-104G>C rs1076222 0.12583
NM_015443.4(KANSL1):c.1533+82G>A rs17659953 0.12581
NM_015443.4(KANSL1):c.2667-283T>C rs62062321 0.12581
NM_015443.4(KANSL1):c.1652+281C>T rs17659731 0.12575
NM_015443.4(KANSL1):c.1533+135T>C rs111519055 0.12569
NM_015443.4(KANSL1):c.2667-62T>A rs77009866 0.12566
NM_015443.4(KANSL1):c.1290-260A>T rs17576695 0.12511
NM_015443.4(KANSL1):c.662C>T (p.Thr221Ile) rs17662853 0.11857
NM_015443.4(KANSL1):c.311A>C (p.Lys104Thr) rs17585974 0.11620
NM_015443.4(KANSL1):c.414T>G (p.Leu138=) rs17662889 0.11611
NM_015443.4(KANSL1):c.673A>G (p.Asn225Asp) rs35643216 0.11593
NM_015443.4(KANSL1):c.1533+101G>C rs16940874 0.05961
NM_015443.4(KANSL1):c.1653-116A>G rs2301732 0.04679
NM_015443.4(KANSL1):c.2136G>A (p.Pro712=) rs2277613 0.04041
NM_015443.4(KANSL1):c.-89-240G>A rs9911018 0.03130
NM_015443.4(KANSL1):c.2667-204G>T rs73317042 0.02845
NM_015443.4(KANSL1):c.2109A>G (p.Leu703=) rs34101027 0.00967
NM_015443.4(KANSL1):c.1289+18A>G rs150225895 0.00275
NM_015443.4(KANSL1):c.3091-18C>G rs186216018 0.00191
NM_015443.4(KANSL1):c.727C>A (p.Gln243Lys) rs142096969 0.00169
NM_015443.4(KANSL1):c.1653-10C>G rs199642265 0.00162
NM_015443.4(KANSL1):c.607G>C (p.Gly203Arg) rs138175526 0.00156
NM_015443.4(KANSL1):c.1826G>A (p.Ser609Asn) rs138698439 0.00146
NM_015443.4(KANSL1):c.1116A>G (p.Lys372=) rs62639965 0.00140
NM_015443.4(KANSL1):c.297A>G (p.Gln99=) rs34801822 0.00137
NM_015443.4(KANSL1):c.2718T>G (p.Asn906Lys) rs139615350 0.00125
NM_015443.4(KANSL1):c.1574C>G (p.Pro525Arg) rs144838667 0.00108
NM_015443.4(KANSL1):c.2949C>T (p.Tyr983=) rs146848167 0.00091
NM_015443.4(KANSL1):c.1738G>A (p.Val580Ile) rs117412152 0.00087
NM_015443.4(KANSL1):c.2628C>T (p.Arg876=) rs149756887 0.00087
NM_015443.4(KANSL1):c.773T>C (p.Leu258Ser) rs145714368 0.00067
NM_015443.4(KANSL1):c.688A>G (p.Asn230Asp) rs34756740 0.00053
NM_015443.4(KANSL1):c.1689C>T (p.Asp563=) rs113557856 0.00051
NM_015443.4(KANSL1):c.1938C>T (p.Pro646=) rs371047711 0.00051
NM_015443.4(KANSL1):c.2481C>T (p.Ser827=) rs143653891 0.00044
NM_015443.4(KANSL1):c.571G>T (p.Gly191Cys) rs149566146 0.00041
NM_015443.4(KANSL1):c.635A>G (p.His212Arg) rs141110759 0.00038
NM_015443.4(KANSL1):c.3170A>G (p.Gln1057Arg) rs201083879 0.00037
NM_015443.4(KANSL1):c.2294C>T (p.Ala765Val) rs151099014 0.00036
NM_015443.4(KANSL1):c.-90+397G>T rs566057890 0.00034
NM_015443.4(KANSL1):c.2159G>A (p.Arg720His) rs148825937 0.00032
NM_015443.4(KANSL1):c.2698G>A (p.Gly900Arg) rs74867664 0.00032
NM_015443.4(KANSL1):c.1654C>A (p.Leu552Ile) rs144337302 0.00029
NM_015443.4(KANSL1):c.2725-7A>G rs186818985 0.00024
NM_015443.4(KANSL1):c.286T>C (p.Leu96=) rs140268765 0.00024
NM_015443.4(KANSL1):c.620A>G (p.Asn207Ser) rs144882998 0.00019
NM_015443.4(KANSL1):c.498A>C (p.Thr166=) rs141491325 0.00014
NM_015443.4(KANSL1):c.849G>A (p.Arg283=) rs754362361 0.00011
NM_015443.4(KANSL1):c.949A>G (p.Ile317Val) rs139843442 0.00010
NM_015443.4(KANSL1):c.30C>T (p.Asp10=) rs200649587 0.00009
NM_015443.4(KANSL1):c.-12T>C rs560212050 0.00006
NM_015443.4(KANSL1):c.-35C>T rs200079769 0.00006
NM_015443.4(KANSL1):c.2230G>C (p.Asp744His) rs200103894 0.00006
NM_015443.4(KANSL1):c.2331C>T (p.Pro777=) rs139663254 0.00006
NM_015443.4(KANSL1):c.1652C>T (p.Thr551Ile) rs778178483 0.00004
NM_001193465.2(KANSL1):c.-223-161A>G
NM_001193465.2(KANSL1):c.-223-43G>A
NM_015443.4(KANSL1):c.*17T>A
NM_015443.4(KANSL1):c.-194C>A
NM_015443.4(KANSL1):c.-49CTCGGC[3] rs769218713
NM_015443.4(KANSL1):c.-89-322dup
NM_015443.4(KANSL1):c.-90+24CCT[3] rs143625699
NM_015443.4(KANSL1):c.-90+267A>G rs62060947
NM_015443.4(KANSL1):c.-90+348_-90+352del rs141752007
NM_015443.4(KANSL1):c.-90+463C>T
NM_015443.4(KANSL1):c.-90+500_-90+501dup
NM_015443.4(KANSL1):c.-90+500_-90+502dup
NM_015443.4(KANSL1):c.-90+500dup
NM_015443.4(KANSL1):c.-90+643G>A
NM_015443.4(KANSL1):c.1098A>T (p.Gly366=)
NM_015443.4(KANSL1):c.1290-139del rs66674327
NM_015443.4(KANSL1):c.1423G>A (p.Ala475Thr) rs547462953
NM_015443.4(KANSL1):c.1431+169C>T
NM_015443.4(KANSL1):c.1432-28T>C
NM_015443.4(KANSL1):c.1491A>G (p.Pro497=) rs17576165
NM_015443.4(KANSL1):c.1653-136A>G
NM_015443.4(KANSL1):c.1849-110C>G
NM_015443.4(KANSL1):c.1849-55T>G rs12150447
NM_015443.4(KANSL1):c.1857G>T (p.Arg619=) rs191986791
NM_015443.4(KANSL1):c.2203+225G>T rs16940845
NM_015443.4(KANSL1):c.2541+18G>A
NM_015443.4(KANSL1):c.2541+24C>G
NM_015443.4(KANSL1):c.2542-308G>A
NM_015443.4(KANSL1):c.2666+29C>A
NM_015443.4(KANSL1):c.2666+49C>T
NM_015443.4(KANSL1):c.2683C>G (p.Leu895Val) rs555819683
NM_015443.4(KANSL1):c.2710GAG[1] (p.Glu905del) rs551968687
NM_015443.4(KANSL1):c.2724+23A>G
NM_015443.4(KANSL1):c.2838-178T>C
NM_015443.4(KANSL1):c.2838-52C>T
NM_015443.4(KANSL1):c.2838-9G>T
NM_015443.4(KANSL1):c.3091-35A>G
NM_015443.4(KANSL1):c.607G>T (p.Gly203Trp)
NM_015443.4(KANSL1):c.680G>A (p.Ser227Asn) rs150345690
Single allele

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