ClinVar Miner

List of variants in gene KANSL1 studied for not provided

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 279
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HGVS dbSNP
GRCh37/hg19 17q21.31(chr17:44108100-44129253)x1
GRCh37/hg19 17q21.31(chr17:44121342-44368212)x3
GRCh37/hg19 17q21.31(chr17:44133070-44291381)x3
GRCh37/hg19 17q21.31(chr17:44133070-44291479)x3
GRCh37/hg19 17q21.31(chr17:44133070-44293981)x3
GRCh37/hg19 17q21.31(chr17:44135827-44293981)x3
GRCh37/hg19 17q21.31(chr17:44135827-44294494)x3
GRCh37/hg19 17q21.31(chr17:44135985-44292319)x3
GRCh37/hg19 17q21.31(chr17:44147793-44293981)x2
GRCh37/hg19 17q21.31(chr17:44150161-44277825)x3
GRCh37/hg19 17q21.31(chr17:44157597-44291399)x3
GRCh37/hg19 17q21.31(chr17:44157597-44293981)x3
GRCh37/hg19 17q21.31(chr17:44157597-44294494)x3
GRCh37/hg19 17q21.31(chr17:44159988-44293981)x3
GRCh37/hg19 17q21.31(chr17:44160674-44293981)x3
GRCh37/hg19 17q21.31(chr17:44160674-44298279)x2
GRCh37/hg19 17q21.31(chr17:44161441-44284057)x3
GRCh37/hg19 17q21.31(chr17:44161441-44293981)x3
GRCh37/hg19 17q21.31(chr17:44161441-44298279)x1
GRCh37/hg19 17q21.31(chr17:44162284-44293981)x3
GRCh37/hg19 17q21.31(chr17:44163809-44292319)x3
GRCh37/hg19 17q21.31(chr17:44163925-44291479)x3
GRCh37/hg19 17q21.31(chr17:44163925-44298279)x3
GRCh37/hg19 17q21.31(chr17:44163925-44364649)x3
GRCh37/hg19 17q21.31(chr17:44164918-44194646)x3
GRCh37/hg19 17q21.31(chr17:44164918-44259919)x3
GRCh37/hg19 17q21.31(chr17:44164918-44277867)x3
GRCh37/hg19 17q21.31(chr17:44164918-44290047)x3
GRCh37/hg19 17q21.31(chr17:44164918-44291399)x3
GRCh37/hg19 17q21.31(chr17:44164918-44291479)x4
GRCh37/hg19 17q21.31(chr17:44164918-44292126)x3
GRCh37/hg19 17q21.31(chr17:44164918-44292896)x3
GRCh37/hg19 17q21.31(chr17:44164918-44294105)x3
GRCh37/hg19 17q21.31(chr17:44164918-44296000)x3
GRCh37/hg19 17q21.31(chr17:44164918-44296224)x3
GRCh37/hg19 17q21.31(chr17:44164918-44326245)x3
GRCh37/hg19 17q21.31(chr17:44164956-44269493)x3
GRCh37/hg19 17q21.31(chr17:44164956-44273264)x3
GRCh37/hg19 17q21.31(chr17:44164956-44281308)x3
GRCh37/hg19 17q21.31(chr17:44164956-44292126)x3
GRCh37/hg19 17q21.31(chr17:44164956-44292319)x3
GRCh37/hg19 17q21.31(chr17:44164956-44293981)x3
GRCh37/hg19 17q21.31(chr17:44164956-44294105)x3
GRCh37/hg19 17q21.31(chr17:44164956-44294494)x3
GRCh37/hg19 17q21.31(chr17:44164956-44298279)x3
GRCh37/hg19 17q21.31(chr17:44164956-44326245)x3
GRCh37/hg19 17q21.31(chr17:44164956-44343902)x3
GRCh37/hg19 17q21.31(chr17:44164956-44350090)x3
GRCh37/hg19 17q21.31(chr17:44165803-44197806)x3
GRCh37/hg19 17q21.31(chr17:44165803-44212727)x3
GRCh37/hg19 17q21.31(chr17:44165803-44266531)x3
GRCh37/hg19 17q21.31(chr17:44165803-44277265)x3
GRCh37/hg19 17q21.31(chr17:44165803-44277825)x3
GRCh37/hg19 17q21.31(chr17:44165803-44277867)x3
GRCh37/hg19 17q21.31(chr17:44165803-44288156)x3
GRCh37/hg19 17q21.31(chr17:44165803-44288640)x3
GRCh37/hg19 17q21.31(chr17:44165803-44292126)x3
GRCh37/hg19 17q21.31(chr17:44165803-44292319)x3
GRCh37/hg19 17q21.31(chr17:44165803-44292884)x3
GRCh37/hg19 17q21.31(chr17:44165803-44292896)x3
GRCh37/hg19 17q21.31(chr17:44165803-44294105)x3
GRCh37/hg19 17q21.31(chr17:44165803-44294494)x3
GRCh37/hg19 17q21.31(chr17:44165803-44295695)x3
GRCh37/hg19 17q21.31(chr17:44165803-44296224)x3
GRCh37/hg19 17q21.31(chr17:44165803-44298279)x3
GRCh37/hg19 17q21.31(chr17:44165803-44350090)x3
GRCh37/hg19 17q21.31(chr17:44165803-44357351)x3
GRCh37/hg19 17q21.31(chr17:44165803-44364649)x3
GRCh37/hg19 17q21.31(chr17:44165803-44368212)x4
GRCh37/hg19 17q21.31(chr17:44166193-44368212)x3
GRCh37/hg19 17q21.31(chr17:44166455-44179155)x3
GRCh37/hg19 17q21.31(chr17:44166455-44291399)x3
GRCh37/hg19 17q21.31(chr17:44166455-44292319)x3
GRCh37/hg19 17q21.31(chr17:44166455-44292884)x3
GRCh37/hg19 17q21.31(chr17:44166500-44294105)x3
GRCh37/hg19 17q21.31(chr17:44166646-44292126)x3
GRCh37/hg19 17q21.31(chr17:44166669-44292319)x3
GRCh37/hg19 17q21.31(chr17:44167366-44296224)x3
GRCh37/hg19 17q21.31(chr17:44169605-44292319)x2
GRCh37/hg19 17q21.31(chr17:44169808-44293981)x3
GRCh37/hg19 17q21.31(chr17:44170018-44326245)x3
GRCh37/hg19 17q21.31(chr17:44176209-44274474)x2
GRCh37/hg19 17q21.31(chr17:44177993-44296224)x2
GRCh37/hg19 17q21.31(chr17:44178337-44368212)x1
GRCh37/hg19 17q21.31(chr17:44189067-44345063)x3
GRCh37/hg19 17q21.31(chr17:44189067-44350090)x3
GRCh37/hg19 17q21.31(chr17:44199417-44292319)x4
GRCh37/hg19 17q21.31(chr17:44199417-44298279)x2
GRCh37/hg19 17q21.31(chr17:44202852-44292884)x2
GRCh37/hg19 17q21.31(chr17:44202852-44298279)x1
GRCh37/hg19 17q21.31(chr17:44205500-44291479)x3
GRCh37/hg19 17q21.31(chr17:44206079-44294105)x1
GRCh37/hg19 17q21.31(chr17:44212310-44292319)x1
GRCh37/hg19 17q21.31(chr17:44212727-44298279)x3
GRCh37/hg19 17q21.31(chr17:44213187-44223107)x3
GRCh37/hg19 17q21.31(chr17:44213187-44274985)x3
GRCh37/hg19 17q21.31(chr17:44213187-44288579)x3
GRCh37/hg19 17q21.31(chr17:44213187-44288640)x3
GRCh37/hg19 17q21.31(chr17:44213187-44291479)x3
GRCh37/hg19 17q21.31(chr17:44213187-44292319)x1
GRCh37/hg19 17q21.31(chr17:44213187-44292319)x3
GRCh37/hg19 17q21.31(chr17:44213187-44293981)x1
GRCh37/hg19 17q21.31(chr17:44213187-44294105)x3
GRCh37/hg19 17q21.31(chr17:44213187-44298279)x3
GRCh37/hg19 17q21.31(chr17:44213187-44326245)x3
GRCh37/hg19 17q21.31(chr17:44213712-44294105)x3
GRCh37/hg19 17q21.31(chr17:44214888-44296224)x3
GRCh37/hg19 17q21.31(chr17:44215823-44279803)x3
GRCh37/hg19 17q21.31(chr17:44215823-44288284)x3
GRCh37/hg19 17q21.31(chr17:44215823-44288640)x3
GRCh37/hg19 17q21.31(chr17:44215823-44292126)x3
GRCh37/hg19 17q21.31(chr17:44215823-44292319)x2
GRCh37/hg19 17q21.31(chr17:44215823-44296224)x3
GRCh37/hg19 17q21.31(chr17:44216013-44275737)x1
GRCh37/hg19 17q21.31(chr17:44216322-44284600)x3
GRCh37/hg19 17q21.31(chr17:44217267-44288284)x3
GRCh37/hg19 17q21.31(chr17:44218044-44298279)x3
GRCh37/hg19 17q21.31(chr17:44221602-44231117)x3
GRCh37/hg19 17q21.31(chr17:44240502-44288284)x3
GRCh37/hg19 17q21.31(chr17:44240986-44331214)x3
GRCh37/hg19 17q21.31(chr17:44240986-44350090)x3
GRCh37/hg19 17q21.31(chr17:44240986-44354796)x3
GRCh37/hg19 17q21.31(chr17:44240986-44368212)x3
GRCh37/hg19 17q21.31(chr17:44249838-44259539)x3
GRCh37/hg19 17q21.31(chr17:44263923-44277825)x3
GRCh37/hg19 17q21.31(chr17:44274474-44277017)x3
GRCh37/hg19 17q21.31(chr17:44274985-44292319)x3
GRCh37/hg19 17q21.31(chr17:44275035-44277825)x4
GRCh37/hg19 17q21.31(chr17:44285531-44292319)x3
GRCh37/hg19 17q21.31(chr17:44285531-44293981)x3
GRCh37/hg19 17q21.31(chr17:44285683-44293981)x3
NC_000017.11:g.46067954_46067957del rs144435729
NC_000017.11:g.46094840del rs66674327
NM_001193466.1:c.1290-?_1431+?dup
NM_001193466.2(KANSL1):c.-47C>T rs765669550
NM_001193466.2(KANSL1):c.-89-202C>T rs2532270
NM_001193466.2(KANSL1):c.-89-23T>C rs2696662
NM_001193466.2(KANSL1):c.-89-240G>A rs9911018
NM_001193466.2(KANSL1):c.1000A>T (p.Asn334Tyr) rs112150341
NM_001193466.2(KANSL1):c.1006G>T (p.Glu336Ter) rs1555575197
NM_001193466.2(KANSL1):c.1022G>A (p.Arg341Gln) rs371321182
NM_001193466.2(KANSL1):c.1080G>A (p.Glu360=) rs1232525310
NM_001193466.2(KANSL1):c.112G>A (p.Gly38Ser) rs770738115
NM_001193466.2(KANSL1):c.1142A>G (p.Glu381Gly) rs796052602
NM_001193466.2(KANSL1):c.1152A>G (p.Thr384=) rs1597870803
NM_001193466.2(KANSL1):c.1186C>T (p.Gln396Ter) rs796052603
NM_001193466.2(KANSL1):c.1189G>A (p.Ala397Thr) rs138565467
NM_001193466.2(KANSL1):c.1255A>G (p.Thr419Ala) rs778528850
NM_001193466.2(KANSL1):c.1269C>T (p.Pro423=) rs750165871
NM_001193466.2(KANSL1):c.1289+179C>T rs2532271
NM_001193466.2(KANSL1):c.1290-260A>T rs17576695
NM_001193466.2(KANSL1):c.1290-324G>A rs80020809
NM_001193466.2(KANSL1):c.1421G>A (p.Arg474His) rs770719196
NM_001193466.2(KANSL1):c.1432-142C>T rs62060852
NM_001193466.2(KANSL1):c.1432-80C>T rs17576200
NM_001193466.2(KANSL1):c.1491A>G (p.Pro497=) rs17576165
NM_001193466.2(KANSL1):c.1512A>G (p.Thr504=) rs1483287405
NM_001193466.2(KANSL1):c.1522A>T (p.Thr508Ser) rs1598573095
NM_001193466.2(KANSL1):c.1532del (p.Lys510_Leu511insTer) rs886039733
NM_001193466.2(KANSL1):c.1533+101G>C rs16940874
NM_001193466.2(KANSL1):c.1533+112G>A rs77925835
NM_001193466.2(KANSL1):c.1533+135T>C rs111519055
NM_001193466.2(KANSL1):c.1533+161G>A rs117475340
NM_001193466.2(KANSL1):c.1533+176A>C rs111913701
NM_001193466.2(KANSL1):c.1533+252G>T rs77138434
NM_001193466.2(KANSL1):c.1533+82G>A rs17659953
NM_001193466.2(KANSL1):c.1534-340A>G rs75641221
NM_001193466.2(KANSL1):c.1563C>G (p.Asn521Lys) rs886043787
NM_001193466.2(KANSL1):c.1579_1582del (p.Ile527fs) rs1057518182
NM_001193466.2(KANSL1):c.158C>G (p.Ala53Gly) rs796052599
NM_001193466.2(KANSL1):c.1651dup (p.Thr551fs) rs1057518010
NM_001193466.2(KANSL1):c.1652+1G>A rs281865470
NM_001193466.2(KANSL1):c.1652+281C>T rs17659731
NM_001193466.2(KANSL1):c.1652C>T (p.Thr551Ile) rs778178483
NM_001193466.2(KANSL1):c.1653-116A>G rs2301732
NM_001193466.2(KANSL1):c.1653-153C>A rs62060799
NM_001193466.2(KANSL1):c.1653-177A>G rs111288789
NM_001193466.2(KANSL1):c.1653-247T>C rs17575822
NM_001193466.2(KANSL1):c.1653-289G>T rs17575850
NM_001193466.2(KANSL1):c.1653-54A>G rs62060798
NM_001193466.2(KANSL1):c.1671A>G (p.Ala557=) rs769241683
NM_001193466.2(KANSL1):c.1673A>T (p.Asp558Val) rs551923672
NM_001193466.2(KANSL1):c.1751C>T (p.Ser584Phe) rs544459109
NM_001193466.2(KANSL1):c.1774C>G (p.Arg592Gly) rs774841964
NM_001193466.2(KANSL1):c.1783C>G (p.Pro595Ala) rs947698008
NM_001193466.2(KANSL1):c.1794C>A (p.Ser598Arg) rs749811911
NM_001193466.2(KANSL1):c.1816C>T (p.Arg606Ter) rs281865469
NM_001193466.2(KANSL1):c.1826G>A (p.Ser609Asn) rs138698439
NM_001193466.2(KANSL1):c.1839T>C (p.Leu613=) rs1598526728
NM_001193466.2(KANSL1):c.1848G>T (p.Lys616Asn) rs1057520050
NM_001193466.2(KANSL1):c.1849-283A>G rs147080346
NM_001193466.2(KANSL1):c.1849-55T>G rs12150447
NM_001193466.2(KANSL1):c.1929C>T (p.Thr643=) rs937831873
NM_001193466.2(KANSL1):c.1938C>T (p.Pro646=) rs371047711
NM_001193466.2(KANSL1):c.19G>A (p.Ala7Thr) rs768152581
NM_001193466.2(KANSL1):c.2021-147T>C rs10514897
NM_001193466.2(KANSL1):c.2058del (p.Lys686fs) rs1064793433
NM_001193466.2(KANSL1):c.2109A>G (p.Leu703=) rs34101027
NM_001193466.2(KANSL1):c.213C>T (p.Asp71=) rs1041951554
NM_001193466.2(KANSL1):c.2152T>C (p.Ser718Pro) rs34043286
NM_001193466.2(KANSL1):c.2203+118A>C rs7221390
NM_001193466.2(KANSL1):c.2203+1G>A rs796052595
NM_001193466.2(KANSL1):c.2203+225G>T rs16940845
NM_001193466.2(KANSL1):c.2225G>A (p.Arg742Gln) rs752047149
NM_001193466.2(KANSL1):c.2233A>G (p.Arg745Gly) rs796052596
NM_001193466.2(KANSL1):c.2256C>T (p.Asp752=) rs760224197
NM_001193466.2(KANSL1):c.2271G>A (p.Val757=) rs1598456648
NM_001193466.2(KANSL1):c.2294C>T (p.Ala765Val) rs151099014
NM_001193466.2(KANSL1):c.2311_2323delinsATG (p.Leu771fs) rs1064796433
NM_001193466.2(KANSL1):c.2392+155C>T rs41437445
NM_001193466.2(KANSL1):c.2392+81A>G rs62062136
NM_001193466.2(KANSL1):c.2393-9C>A rs1004017370
NM_001193466.2(KANSL1):c.2424G>A (p.Ser808=) rs570967215
NM_001193466.2(KANSL1):c.2502A>G (p.Ala834=) rs749802464
NM_001193466.2(KANSL1):c.2534G>A (p.Ser845Asn) rs796052597
NM_001193466.2(KANSL1):c.2541+174C>T rs12150542
NM_001193466.2(KANSL1):c.2541G>A (p.Ser847=) rs200079722
NM_001193466.2(KANSL1):c.2542-176G>T rs17653162
NM_001193466.2(KANSL1):c.2580T>C (p.Phe860=) rs17574604
NM_001193466.2(KANSL1):c.2667-204G>T rs73317042
NM_001193466.2(KANSL1):c.2667-283T>C rs62062321
NM_001193466.2(KANSL1):c.2667-62T>A rs77009866
NM_001193466.2(KANSL1):c.2724+99G>C rs4597358
NM_001193466.2(KANSL1):c.2725-7A>G rs186818985
NM_001193466.2(KANSL1):c.2830_2837+13del rs1064796289
NM_001193466.2(KANSL1):c.2837+175C>T rs7350980
NM_001193466.2(KANSL1):c.2837+7G>T rs780476310
NM_001193466.2(KANSL1):c.2838-104G>C rs1076222
NM_001193466.2(KANSL1):c.2856C>T (p.Asp952=) rs1431158114
NM_001193466.2(KANSL1):c.2902del (p.Gln968fs) rs1374665357
NM_001193466.2(KANSL1):c.3056G>A (p.Arg1019His) rs781056926
NM_001193466.2(KANSL1):c.3057T>C (p.Arg1019=) rs1598441174
NM_001193466.2(KANSL1):c.3090+165C>T rs55881134
NM_001193466.2(KANSL1):c.3091-10C>T rs199901217
NM_001193466.2(KANSL1):c.3091-119G>C rs17574425
NM_001193466.2(KANSL1):c.3091-5_3091-2dup rs760084513
NM_001193466.2(KANSL1):c.311A>C (p.Lys104Thr) rs17585974
NM_001193466.2(KANSL1):c.3123C>G (p.Pro1041=) rs960036500
NM_001193466.2(KANSL1):c.3170A>G (p.Gln1057Arg) rs201083879
NM_001193466.2(KANSL1):c.3266A>G (p.Lys1089Arg) rs1568364868
NM_001193466.2(KANSL1):c.3298C>G (p.Gln1100Glu) rs796052598
NM_001193466.2(KANSL1):c.3310_3311CA[1] (p.His1104fs) rs761370843
NM_001193466.2(KANSL1):c.387A>G (p.Pro129=) rs753493307
NM_001193466.2(KANSL1):c.399_400insAAT (p.Ser134_Leu135insAsn) rs770503769
NM_001193466.2(KANSL1):c.403T>G (p.Leu135Val) rs1064797226
NM_001193466.2(KANSL1):c.414T>G (p.Leu138=) rs17662889
NM_001193466.2(KANSL1):c.452A>G (p.Gln151Arg) rs796052600
NM_001193466.2(KANSL1):c.536_537dup (p.Lys180fs) rs1064794038
NM_001193466.2(KANSL1):c.570G>A (p.Gly190=) rs1365962710
NM_001193466.2(KANSL1):c.607G>A (p.Gly203Arg) rs138175526
NM_001193466.2(KANSL1):c.607G>C (p.Gly203Arg) rs138175526
NM_001193466.2(KANSL1):c.620A>G (p.Asn207Ser) rs144882998
NM_001193466.2(KANSL1):c.669T>C (p.Tyr223=) rs778659171
NM_001193466.2(KANSL1):c.673A>G (p.Asn225Asp) rs35643216
NM_001193466.2(KANSL1):c.680G>A (p.Ser227Asn) rs150345690
NM_001193466.2(KANSL1):c.696C>T (p.Ser232=) rs1881194
NM_001193466.2(KANSL1):c.706T>C (p.Ser236Pro) rs747832991
NM_001193466.2(KANSL1):c.727C>A (p.Gln243Lys) rs142096969
NM_001193466.2(KANSL1):c.736A>G (p.Ser246Gly) rs141969887
NM_001193466.2(KANSL1):c.741A>G (p.Arg247=) rs1881193
NM_001193466.2(KANSL1):c.760T>G (p.Ser254Ala) rs780074451
NM_001193466.2(KANSL1):c.773T>C (p.Leu258Ser) rs145714368
NM_001193466.2(KANSL1):c.779del (p.Gly260fs) rs748018297
NM_001193466.2(KANSL1):c.779dup (p.Val261fs) rs748018297
NM_001193466.2(KANSL1):c.805C>T (p.Pro269Ser) rs200903841
NM_001193466.2(KANSL1):c.808_809del (p.Leu270fs) rs551541795
NM_001193466.2(KANSL1):c.808del (p.Leu270fs) rs1555575489
NM_001193466.2(KANSL1):c.868C>T (p.Arg290Ter) rs149830411
NM_001193466.2(KANSL1):c.930C>T (p.Ala310=) rs763673329
NM_001193466.2(KANSL1):c.954A>G (p.Gln318=) rs773332161
NM_015443.4(KANSL1):c.117C>T (p.Asn39=) rs747136051
NM_015443.4(KANSL1):c.1288_1289del (p.Leu430fs)
NM_015443.4(KANSL1):c.1450del (p.Glu484fs) rs34878385
NM_015443.4(KANSL1):c.2667-4dup
NM_015443.4(KANSL1):c.2902dup (p.Gln968fs) rs1374665357
NM_015443.4(KANSL1):c.2956_2957del (p.Gly986fs) rs1598441446
NM_015443.4(KANSL1):c.608_611dup (p.Met205fs) rs1304078301
NM_015443.4(KANSL1):c.778G>A (p.Gly260Ser)
NM_015443.4(KANSL1):c.930del (p.Lys311fs) rs1597871799

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