ClinVar Miner

List of variants reported as benign for Kabuki syndrome 2

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 83
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001291415.2(KDM6A):c.4161+14T>C rs5952682 0.22765
NM_001291415.2(KDM6A):c.3267G>A (p.Gln1089=) rs20539 0.16047
NM_001291415.2(KDM6A):c.2859-16T>C rs778778940 0.05699
NM_001291415.2(KDM6A):c.1999C>G (p.Leu667Val) rs112725812 0.00712
NM_001291415.2(KDM6A):c.1897A>G (p.Thr633Ala) rs34922269 0.00625
NM_001291415.2(KDM6A):c.3870T>C (p.Ala1290=) rs142238688 0.00458
NM_001291415.2(KDM6A):c.3834T>C (p.His1278=) rs138989066 0.00426
NM_001291415.2(KDM6A):c.1683+3G>A rs61751429 0.00283
NM_001291415.2(KDM6A):c.2859-5T>C rs747739852 0.00254
NM_001291415.2(KDM6A):c.88G>A (p.Ala30Thr) rs6529 0.00208
NM_001291415.2(KDM6A):c.749-17T>A rs190081920 0.00095
NM_001291415.2(KDM6A):c.1907C>T (p.Thr636Met) rs141353229 0.00079
NM_001291415.2(KDM6A):c.3335A>T (p.His1112Leu) rs141303384 0.00073
NM_001291415.2(KDM6A):c.1194+17G>A rs371918621 0.00061
NM_001291415.2(KDM6A):c.1558T>C (p.Cys520Arg) rs138723332 0.00048
NM_001291415.2(KDM6A):c.1683+20C>T rs557391484 0.00046
NM_001291415.2(KDM6A):c.3301-16T>G rs201370572 0.00030
NM_001291415.2(KDM6A):c.2487T>A (p.Asn829Lys) rs148434372 0.00026
NM_001291415.2(KDM6A):c.1284C>T (p.Pro428=) rs147633358 0.00021
NM_001291415.2(KDM6A):c.3300+11G>A rs377090958 0.00021
NM_001291415.2(KDM6A):c.2421G>A (p.Thr807=) rs374758648 0.00015
NM_001291415.2(KDM6A):c.2900T>C (p.Leu967Ser) rs199761905 0.00015
NM_001291415.2(KDM6A):c.3095-18A>G rs775747385 0.00011
NM_001291415.2(KDM6A):c.3955A>G (p.Ile1319Val) rs372785727 0.00010
NM_001291415.2(KDM6A):c.3300+20A>C rs769466820 0.00009
NM_001291415.2(KDM6A):c.444-7C>T rs375045349 0.00008
NM_001291415.2(KDM6A):c.1812C>T (p.Ser604=) rs776420271 0.00007
NM_001291415.2(KDM6A):c.2799C>A (p.Ile933=) rs754951388 0.00007
NM_001291415.2(KDM6A):c.3162A>G (p.Thr1054=) rs754639174 0.00007
NM_001291415.2(KDM6A):c.655-16T>C rs570077971 0.00007
NM_001291415.2(KDM6A):c.1948A>G (p.Ile650Val) rs762004743 0.00006
NM_001291415.2(KDM6A):c.2346A>G (p.Thr782=) rs746903785 0.00006
NM_001291415.2(KDM6A):c.2961G>A (p.Lys987=) rs144564697 0.00006
NM_001291415.2(KDM6A):c.2329T>C (p.Leu777=) rs757380047 0.00005
NM_001291415.2(KDM6A):c.3440+20T>G rs374117421 0.00005
NM_001291415.2(KDM6A):c.1582-14T>G rs752540909 0.00004
NM_001291415.2(KDM6A):c.4135C>G (p.Pro1379Ala) rs370883451 0.00004
NM_001291415.2(KDM6A):c.624A>G (p.Gln208=) rs200602649 0.00004
NM_001291415.2(KDM6A):c.2637A>G (p.Thr879=) rs774419812 0.00003
NM_001291415.2(KDM6A):c.654+18T>C rs761988382 0.00003
NM_001291415.2(KDM6A):c.2436C>T (p.Cys812=) rs144511145 0.00002
NM_001291415.2(KDM6A):c.2888G>C (p.Ser963Thr) rs201673109 0.00002
NM_001291415.2(KDM6A):c.3365+20C>T rs770935771 0.00002
NM_001291415.2(KDM6A):c.4217A>G (p.Tyr1406Cys) rs375096245 0.00002
NM_001291415.2(KDM6A):c.4255G>A (p.Gly1419Arg) rs370298215 0.00002
NM_001291415.2(KDM6A):c.4341A>G (p.Pro1447=) rs778920577 0.00002
NM_001291415.2(KDM6A):c.918T>C (p.Ser306=) rs753152841 0.00002
NM_001291415.2(KDM6A):c.201C>T (p.Ala67=) rs377172165 0.00001
NM_001291415.2(KDM6A):c.663T>C (p.Tyr221=) rs755807604 0.00001
NM_001291415.2(KDM6A):c.1215A>T (p.Pro405=)
NM_001291415.2(KDM6A):c.147C>T (p.Leu49=)
NM_001291415.2(KDM6A):c.156G>A (p.Leu52=)
NM_001291415.2(KDM6A):c.1684-5G>T
NM_001291415.2(KDM6A):c.1874C>T (p.Ser625Phe) rs765545282
NM_001291415.2(KDM6A):c.2108C>T (p.Ser703Leu)
NM_001291415.2(KDM6A):c.2129G>A (p.Arg710Gln)
NM_001291415.2(KDM6A):c.2187G>A (p.Gln729=)
NM_001291415.2(KDM6A):c.225+16G>C
NM_001291415.2(KDM6A):c.226-19T>C
NM_001291415.2(KDM6A):c.226-4C>A
NM_001291415.2(KDM6A):c.2333C>A (p.Thr778Lys) rs2230018
NM_001291415.2(KDM6A):c.2333C>T (p.Thr778Met) rs2230018
NM_001291415.2(KDM6A):c.2526C>G (p.Asn842Lys)
NM_001291415.2(KDM6A):c.2859-5del rs10605935
NM_001291415.2(KDM6A):c.2859-5dup rs10605935
NM_001291415.2(KDM6A):c.2859-6_2859-5del rs10605935
NM_001291415.2(KDM6A):c.2859-7_2859-5del rs10605935
NM_001291415.2(KDM6A):c.3295T>C (p.Leu1099=) rs747260329
NM_001291415.2(KDM6A):c.334+11del
NM_001291415.2(KDM6A):c.3705-11dup rs746893662
NM_001291415.2(KDM6A):c.3893-6del rs748438075
NM_001291415.2(KDM6A):c.3893-6dup rs748438075
NM_001291415.2(KDM6A):c.3924C>T (p.Tyr1308=)
NM_001291415.2(KDM6A):c.4045C>T (p.Leu1349=)
NM_001291415.2(KDM6A):c.40_51del (p.Ala14_Ala17del) rs749062014
NM_001291415.2(KDM6A):c.40_51dup (p.Ala14_Ala17dup) rs749062014
NM_001291415.2(KDM6A):c.42CGC[4] (p.Ala17dup) rs797044622
NM_001291415.2(KDM6A):c.609C>T (p.Ser203=)
NM_001291415.2(KDM6A):c.655-13_655-12del rs758763063
NM_001291415.2(KDM6A):c.655-15T>C
NM_001291415.2(KDM6A):c.799A>G (p.Ser267Gly)
NM_001291415.2(KDM6A):c.875+16C>T
NM_001291415.2(KDM6A):c.981A>G (p.Leu327=)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.