ClinVar Miner

List of variants studied for Koolen-de Vries syndrome by Fulgent Genetics, Fulgent Genetics

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 72
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_015443.4(KANSL1):c.3029C>T (p.Pro1010Leu) rs7220988 0.34127
NM_015443.4(KANSL1):c.2109A>G (p.Leu703=) rs34101027 0.00967
NM_015443.4(KANSL1):c.773T>C (p.Leu258Ser) rs145714368 0.00328
NM_015443.4(KANSL1):c.3091-18C>G rs186216018 0.00195
NM_015443.4(KANSL1):c.1653-10C>G rs199642265 0.00170
NM_015443.4(KANSL1):c.297A>G (p.Gln99=) rs34801822 0.00164
NM_015443.4(KANSL1):c.607G>C (p.Gly203Arg) rs138175526 0.00156
NM_015443.4(KANSL1):c.1116A>G (p.Lys372=) rs62639965 0.00107
NM_015443.4(KANSL1):c.1938C>T (p.Pro646=) rs371047711 0.00070
NM_015443.4(KANSL1):c.688A>G (p.Asn230Asp) rs34756740 0.00053
NM_015443.4(KANSL1):c.1689C>T (p.Asp563=) rs113557856 0.00044
NM_015443.4(KANSL1):c.571G>T (p.Gly191Cys) rs149566146 0.00042
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.2698G>A (p.Gly900Arg) rs74867664 0.00032
NM_015443.4(KANSL1):c.286T>C (p.Leu96=) rs140268765 0.00024
NM_015443.4(KANSL1):c.525C>T (p.Ser175=) rs148321376 0.00021
NM_015443.4(KANSL1):c.620A>G (p.Asn207Ser) rs144882998 0.00019
NM_015443.4(KANSL1):c.1261G>A (p.Ala421Thr) rs150115249 0.00010
NM_015443.4(KANSL1):c.805C>T (p.Pro269Ser) rs200903841 0.00008
NM_015443.4(KANSL1):c.442G>A (p.Ala148Thr) rs140089320 0.00007
NM_015443.4(KANSL1):c.1527T>G (p.Asp509Glu) rs527948436 0.00006
NM_015443.4(KANSL1):c.2230G>C (p.Asp744His) rs200103894 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.729A>G (p.Gln243=) rs775976415 0.00006
NM_015443.4(KANSL1):c.992A>G (p.Lys331Arg) rs570475423 0.00005
NM_015443.4(KANSL1):c.1848+3C>T rs763185589 0.00004
NM_015443.4(KANSL1):c.2414T>C (p.Met805Thr) rs201526313 0.00004
NM_015443.4(KANSL1):c.2985G>A (p.Pro995=) rs371484505 0.00004
NM_015443.4(KANSL1):c.3056G>A (p.Arg1019His) rs781056926 0.00004
NM_015443.4(KANSL1):c.1059C>A (p.Ala353=) rs761810633 0.00003
NM_015443.4(KANSL1):c.1830C>T (p.Ile610=) rs150800846 0.00003
NM_015443.4(KANSL1):c.1855C>T (p.Arg619Trp) rs141298741 0.00003
NM_015443.4(KANSL1):c.1945C>G (p.His649Asp) rs759914921 0.00003
NM_015443.4(KANSL1):c.2130C>T (p.Pro710=) rs190201507 0.00003
NM_015443.4(KANSL1):c.468G>C (p.Gly156=) rs150877831 0.00003
NM_015443.4(KANSL1):c.843C>T (p.Asp281=) rs753023870 0.00003
NM_015443.4(KANSL1):c.963G>A (p.Leu321=) rs772111208 0.00003
NM_015443.4(KANSL1):c.1110T>C (p.Phe370=) rs374053775 0.00002
NM_015443.4(KANSL1):c.1290-20C>T rs373424916 0.00002
NM_015443.4(KANSL1):c.2262G>A (p.Val754=) rs141092796 0.00002
NM_015443.4(KANSL1):c.2406C>A (p.His802Gln) rs773681267 0.00002
NM_015443.4(KANSL1):c.2687A>G (p.Gln896Arg) rs774020325 0.00002
NM_015443.4(KANSL1):c.-89-17T>C rs1051577933 0.00001
NM_015443.4(KANSL1):c.1289+9A>C rs760002592 0.00001
NM_015443.4(KANSL1):c.1391G>A (p.Arg464His) rs769289937 0.00001
NM_015443.4(KANSL1):c.1783C>G (p.Pro595Ala) rs947698008 0.00001
NM_015443.4(KANSL1):c.2264G>A (p.Gly755Glu) rs761904173 0.00001
NM_015443.4(KANSL1):c.2269G>A (p.Val757Met) rs749337566 0.00001
NM_015443.4(KANSL1):c.2860C>T (p.Arg954Trp) rs1322831151 0.00001
NM_015443.4(KANSL1):c.2861G>A (p.Arg954Gln) rs376635152 0.00001
NM_015443.4(KANSL1):c.316A>G (p.Thr106Ala) rs371450753 0.00001
NM_015443.4(KANSL1):c.3230A>T (p.Glu1077Val) rs760256746 0.00001
NM_015443.4(KANSL1):c.3238C>T (p.Pro1080Ser) rs199769766 0.00001
NM_015443.4(KANSL1):c.455C>T (p.Ala152Val) rs775582928 0.00001
NM_015443.4(KANSL1):c.496A>G (p.Thr166Ala) rs778413024 0.00001
NM_015443.4(KANSL1):c.608G>T (p.Gly203Val) rs759522694 0.00001
NM_015443.4(KANSL1):c.1616G>A (p.Cys539Tyr) rs776741181
NM_015443.4(KANSL1):c.1839T>C (p.Leu613=) rs1598526728
NM_015443.4(KANSL1):c.1859A>C (p.Asn620Thr) rs200979425
NM_015443.4(KANSL1):c.2014C>G (p.Pro672Ala) rs1446402549
NM_015443.4(KANSL1):c.2256C>T (p.Asp752=) rs760224197
NM_015443.4(KANSL1):c.2752G>T (p.Ala918Ser) rs752325882
NM_015443.4(KANSL1):c.301G>A (p.Val101Ile) rs760506954
NM_015443.4(KANSL1):c.577A>G (p.Met193Val) rs2147744657
NM_015443.4(KANSL1):c.607G>A (p.Gly203Arg) rs138175526
NM_015443.4(KANSL1):c.607G>T (p.Gly203Trp) rs138175526
NM_015443.4(KANSL1):c.631C>G (p.Pro211Ala) rs745305837
NM_015443.4(KANSL1):c.680G>A (p.Ser227Asn) rs150345690
NM_015443.4(KANSL1):c.773_774inv (p.Leu258Ser)
NM_015443.4(KANSL1):c.954A>T (p.Gln318His) rs773332161

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.