ClinVar Miner

List of variants in gene KANSL1 reported as benign by Invitae

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Gene type:
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Total variants: 79
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HGVS dbSNP gnomAD frequency
NM_015443.4(KANSL1):c.1011C>G (p.Ser337=) rs2240758 0.16502
NM_015443.4(KANSL1):c.696C>T (p.Ser232=) rs1881194 0.14580
NM_015443.4(KANSL1):c.2152T>C (p.Ser718Pro) rs34043286 0.14472
NM_015443.4(KANSL1):c.2580T>C (p.Phe860=) rs17574604 0.14470
NM_015443.4(KANSL1):c.741A>G (p.Arg247=) rs1881193 0.12760
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.2136G>A (p.Pro712=) rs2277613 0.04041
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.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.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.800A>G (p.Lys267Arg) rs140181991 0.00080
NM_015443.4(KANSL1):c.773T>C (p.Leu258Ser) rs145714368 0.00067
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.2294C>T (p.Ala765Val) rs151099014 0.00036
NM_015443.4(KANSL1):c.1653-11C>T rs201471275 0.00035
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.2725-7A>G rs186818985 0.00024
NM_015443.4(KANSL1):c.1124C>T (p.Ser375Leu) rs142696045 0.00022
NM_015443.4(KANSL1):c.620A>G (p.Asn207Ser) rs144882998 0.00019
NM_015443.4(KANSL1):c.2110T>C (p.Ser704Pro) rs202231419 0.00015
NM_015443.4(KANSL1):c.3146A>G (p.Glu1049Gly) rs771796347 0.00010
NM_015443.4(KANSL1):c.949A>G (p.Ile317Val) rs139843442 0.00010
NM_015443.4(KANSL1):c.1000A>G (p.Asn334Asp) rs112150341 0.00006
NM_015443.4(KANSL1):c.1831G>A (p.Val611Ile) rs202150313 0.00006
NM_015443.4(KANSL1):c.296A>G (p.Gln99Arg) rs754727332 0.00006
NM_015443.4(KANSL1):c.3053C>T (p.Thr1018Ile) rs145863194 0.00006
NM_015443.4(KANSL1):c.3306G>A (p.Pro1102=) rs143746890 0.00006
NM_015443.4(KANSL1):c.2414T>C (p.Met805Thr) rs201526313 0.00004
NM_015443.4(KANSL1):c.779G>T (p.Gly260Val) rs758752787 0.00004
NM_015443.4(KANSL1):c.1848+4G>A rs766458949 0.00003
NM_015443.4(KANSL1):c.1855C>T (p.Arg619Trp) rs141298741 0.00003
NM_015443.4(KANSL1):c.1900G>A (p.Ala634Thr) rs145938212 0.00003
NM_015443.4(KANSL1):c.2194A>G (p.Thr732Ala) rs1036089094 0.00003
NM_015443.4(KANSL1):c.2541G>A (p.Ser847=) rs200079722 0.00003
NM_015443.4(KANSL1):c.2755G>A (p.Ala919Thr) rs776547113 0.00003
NM_015443.4(KANSL1):c.477G>T (p.Lys159Asn) rs188294801 0.00003
NM_015443.4(KANSL1):c.706T>C (p.Ser236Pro) rs747832991 0.00003
NM_015443.4(KANSL1):c.719C>T (p.Pro240Leu) rs767565501 0.00003
NM_015443.4(KANSL1):c.1106A>G (p.Asn369Ser) rs139564524 0.00002
NM_015443.4(KANSL1):c.1255A>G (p.Thr419Ala) rs778528850 0.00001
NM_015443.4(KANSL1):c.2225G>A (p.Arg742Gln) rs752047149 0.00001
NM_015443.4(KANSL1):c.2743G>A (p.Ala915Thr) rs756685224 0.00001
NM_015443.4(KANSL1):c.3016G>T (p.Ala1006Ser) rs1286813277 0.00001
NM_015443.4(KANSL1):c.3236C>T (p.Ala1079Val) rs370112084 0.00001
NM_001193466.1:c.1290-?_1431+?dup
NM_015443.4(KANSL1):c.1318G>A (p.Ala440Thr) rs1240185267
NM_015443.4(KANSL1):c.1423G>A (p.Ala475Thr) rs547462953
NM_015443.4(KANSL1):c.1491A>G (p.Pro497=) rs17576165
NM_015443.4(KANSL1):c.1543G>C (p.Val515Leu) rs2078430687
NM_015443.4(KANSL1):c.1574= (p.Pro525=)
NM_015443.4(KANSL1):c.1909G>A (p.Gly637Ser) rs752154509
NM_015443.4(KANSL1):c.1921A>G (p.Ile641Val)
NM_015443.4(KANSL1):c.2111C>T (p.Ser704Leu)
NM_015443.4(KANSL1):c.2255A>G (p.Asp752Gly)
NM_015443.4(KANSL1):c.2332G>C (p.Val778Leu) rs1472029797
NM_015443.4(KANSL1):c.2450C>G (p.Pro817Arg)
NM_015443.4(KANSL1):c.2541+18G>A
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.2838-9G>T
NM_015443.4(KANSL1):c.3064A>G (p.Thr1022Ala)
NM_015443.4(KANSL1):c.3289G>C (p.Ala1097Pro) rs2077005160
NM_015443.4(KANSL1):c.494C>T (p.Ser165Leu) rs747586763
NM_015443.4(KANSL1):c.729A>G (p.Gln243=)

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