ClinVar Miner

List of variants in gene KMT2C reported as uncertain significance for Kleefstra syndrome 2

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 149
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_170606.3(KMT2C):c.10513A>G (p.Asn3505Asp) rs140626076 0.00036
NM_170606.3(KMT2C):c.5957G>A (p.Arg1986Gln) rs138373177 0.00024
NM_170606.3(KMT2C):c.10270G>A (p.Ala3424Thr) rs776155729 0.00009
NM_170606.3(KMT2C):c.11651C>T (p.Thr3884Met) rs140246095 0.00008
NM_170606.3(KMT2C):c.1700A>G (p.Asn567Ser) rs12674022 0.00006
NM_170606.3(KMT2C):c.7372T>C (p.Phe2458Leu) rs375555515 0.00006
NM_170606.3(KMT2C):c.14017C>T (p.Arg4673Cys) rs370620314 0.00003
NM_170606.3(KMT2C):c.6604C>A (p.Pro2202Thr) rs760297553 0.00003
NM_170606.3(KMT2C):c.8369T>C (p.Val2790Ala) rs771525847 0.00003
NM_170606.3(KMT2C):c.10564A>G (p.Ile3522Val) rs571653303 0.00002
NM_170606.3(KMT2C):c.12370A>G (p.Met4124Val) rs587778509 0.00002
NM_170606.3(KMT2C):c.6835C>A (p.Pro2279Thr) rs775809939 0.00002
NM_170606.3(KMT2C):c.6896A>G (p.Tyr2299Cys) rs587778494 0.00002
NM_170606.3(KMT2C):c.8471C>T (p.Thr2824Met) rs780982767 0.00002
NM_170606.3(KMT2C):c.9823A>G (p.Met3275Val) rs182795390 0.00002
NM_170606.3(KMT2C):c.9973A>T (p.Ser3325Cys) rs778808532 0.00002
NM_170606.3(KMT2C):c.10207C>T (p.Arg3403Cys) rs201762858 0.00001
NM_170606.3(KMT2C):c.12194C>T (p.Ala4065Val) rs141966811 0.00001
NM_170606.3(KMT2C):c.13158G>T (p.Leu4386Phe) rs762380795 0.00001
NM_170606.3(KMT2C):c.1331G>A (p.Arg444Gln) rs760928040 0.00001
NM_170606.3(KMT2C):c.13354C>A (p.Leu4452Ile) rs1259070282 0.00001
NM_170606.3(KMT2C):c.3874C>G (p.Arg1292Gly) rs1554526666 0.00001
NM_170606.3(KMT2C):c.4030A>G (p.Ile1344Val) rs945467133 0.00001
NM_170606.3(KMT2C):c.4382T>C (p.Ile1461Thr) rs1254246915 0.00001
NM_170606.3(KMT2C):c.508A>G (p.Lys170Glu) rs200182945 0.00001
NM_170606.3(KMT2C):c.53C>T (p.Pro18Leu) rs758889240 0.00001
NM_170606.3(KMT2C):c.5512C>T (p.Pro1838Ser) rs776192339 0.00001
NM_170606.3(KMT2C):c.5851G>A (p.Asp1951Asn) rs781220804 0.00001
NM_170606.3(KMT2C):c.6638G>C (p.Gly2213Ala) rs1447958658 0.00001
NM_170606.3(KMT2C):c.709A>G (p.Ile237Val) rs587778510 0.00001
NM_170606.3(KMT2C):c.7841G>T (p.Gly2614Val) rs767634921 0.00001
NM_170606.3(KMT2C):c.9905C>T (p.Pro3302Leu) rs2092577305 0.00001
NM_170606.3(KMT2C):c.9989C>G (p.Pro3330Arg) rs545625106 0.00001
NM_170606.3(KMT2C):c.10001G>T (p.Gly3334Val) rs2092571999
NM_170606.3(KMT2C):c.10054C>G (p.Gln3352Glu) rs2092568887
NM_170606.3(KMT2C):c.10116T>G (p.Asn3372Lys)
NM_170606.3(KMT2C):c.10144C>T (p.Arg3382Trp)
NM_170606.3(KMT2C):c.10335G>T (p.Arg3445Ser)
NM_170606.3(KMT2C):c.10789A>G (p.Ile3597Val) rs2092524691
NM_170606.3(KMT2C):c.10874C>T (p.Pro3625Leu) rs964546045
NM_170606.3(KMT2C):c.10877A>C (p.His3626Pro)
NM_170606.3(KMT2C):c.10931C>T (p.Pro3644Leu) rs2129103910
NM_170606.3(KMT2C):c.11125A>G (p.Met3709Val)
NM_170606.3(KMT2C):c.11254C>T (p.Pro3752Ser)
NM_170606.3(KMT2C):c.11260T>C (p.Ser3754Pro)
NM_170606.3(KMT2C):c.11405A>G (p.Asp3802Gly)
NM_170606.3(KMT2C):c.11671-1G>A
NM_170606.3(KMT2C):c.11720C>T (p.Thr3907Ile) rs2129099844
NM_170606.3(KMT2C):c.11899A>G (p.Lys3967Glu)
NM_170606.3(KMT2C):c.11984G>A (p.Arg3995Gln)
NM_170606.3(KMT2C):c.12322C>T (p.Arg4108Ter)
NM_170606.3(KMT2C):c.12443C>T (p.Pro4148Leu)
NM_170606.3(KMT2C):c.12444G>T (p.Pro4148=) rs147957197
NM_170606.3(KMT2C):c.1256A>G (p.Gln419Arg)
NM_170606.3(KMT2C):c.12674G>A (p.Arg4225Gln)
NM_170606.3(KMT2C):c.12837G>C (p.Gln4279His)
NM_170606.3(KMT2C):c.13174C>T (p.Pro4392Ser)
NM_170606.3(KMT2C):c.13273G>A (p.Asp4425Asn)
NM_170606.3(KMT2C):c.13364G>A (p.Arg4455Lys)
NM_170606.3(KMT2C):c.13513A>G (p.Met4505Val) rs1338474545
NM_170606.3(KMT2C):c.13583A>T (p.Gln4528Leu) rs1249858653
NM_170606.3(KMT2C):c.1361T>A (p.Leu454Gln)
NM_170606.3(KMT2C):c.13966G>A (p.Ala4656Thr)
NM_170606.3(KMT2C):c.14320T>C (p.Tyr4774His)
NM_170606.3(KMT2C):c.14329C>T (p.Arg4777Trp)
NM_170606.3(KMT2C):c.14343+3G>A
NM_170606.3(KMT2C):c.14376G>C (p.Glu4792Asp)
NM_170606.3(KMT2C):c.14537A>G (p.Tyr4846Cys)
NM_170606.3(KMT2C):c.14669T>A (p.Phe4890Tyr) rs2089918301
NM_170606.3(KMT2C):c.1522C>G (p.Leu508Val) rs2095570221
NM_170606.3(KMT2C):c.162-1G>T rs1177551329
NM_170606.3(KMT2C):c.1665G>T (p.Met555Ile) rs552470432
NM_170606.3(KMT2C):c.1876G>A (p.Glu626Lys) rs2095513181
NM_170606.3(KMT2C):c.2074G>A (p.Val692Ile) rs2095510300
NM_170606.3(KMT2C):c.2182_2183delinsCC (p.Glu728Pro)
NM_170606.3(KMT2C):c.2291C>T (p.Ser764Phe)
NM_170606.3(KMT2C):c.2388G>C (p.Met796Ile) rs2129163898
NM_170606.3(KMT2C):c.2525C>T (p.Ser842Phe)
NM_170606.3(KMT2C):c.2645T>C (p.Ile882Thr)
NM_170606.3(KMT2C):c.2657G>A (p.Arg886His) rs112773078
NM_170606.3(KMT2C):c.2776A>C (p.Thr926Pro)
NM_170606.3(KMT2C):c.278A>T (p.Asp93Val)
NM_170606.3(KMT2C):c.2983A>G (p.Lys995Glu)
NM_170606.3(KMT2C):c.303C>G (p.Ser101Arg)
NM_170606.3(KMT2C):c.30G>T (p.Glu10Asp)
NM_170606.3(KMT2C):c.3194C>G (p.Ala1065Gly) rs1284707010
NM_170606.3(KMT2C):c.32AGCCGC[3] (p.Pro14_Pro15insGlnPro)
NM_170606.3(KMT2C):c.3863G>A (p.Arg1288Gln) rs1345303559
NM_170606.3(KMT2C):c.3902C>T (p.Ser1301Phe)
NM_170606.3(KMT2C):c.4602G>T (p.Gln1534His) rs992987667
NM_170606.3(KMT2C):c.461G>C (p.Arg154Thr)
NM_170606.3(KMT2C):c.4766T>C (p.Ile1589Thr) rs985359158
NM_170606.3(KMT2C):c.4852T>C (p.Ser1618Pro) rs2129124726
NM_170606.3(KMT2C):c.4918G>C (p.Glu1640Gln) rs373510851
NM_170606.3(KMT2C):c.5030A>G (p.Gln1677Arg)
NM_170606.3(KMT2C):c.508AAG[1] (p.Lys171del)
NM_170606.3(KMT2C):c.5150A>C (p.Lys1717Thr)
NM_170606.3(KMT2C):c.5171G>A (p.Ser1724Asn)
NM_170606.3(KMT2C):c.5189G>T (p.Arg1730Leu)
NM_170606.3(KMT2C):c.5198C>T (p.Ser1733Leu)
NM_170606.3(KMT2C):c.52C>T (p.Pro18Ser)
NM_170606.3(KMT2C):c.530G>A (p.Ser177Asn)
NM_170606.3(KMT2C):c.5336A>C (p.Glu1779Ala)
NM_170606.3(KMT2C):c.5404C>T (p.Pro1802Ser) rs1425340331
NM_170606.3(KMT2C):c.5536G>A (p.Val1846Met)
NM_170606.3(KMT2C):c.5584A>C (p.Ile1862Leu)
NM_170606.3(KMT2C):c.5594A>G (p.Gln1865Arg)
NM_170606.3(KMT2C):c.577A>G (p.Arg193Gly) rs2096711264
NM_170606.3(KMT2C):c.6035C>A (p.Pro2012His)
NM_170606.3(KMT2C):c.6236C>T (p.Pro2079Leu)
NM_170606.3(KMT2C):c.6278C>T (p.Pro2093Leu)
NM_170606.3(KMT2C):c.6308C>G (p.Pro2103Arg)
NM_170606.3(KMT2C):c.6349T>C (p.Ser2117Pro)
NM_170606.3(KMT2C):c.6361_6362insATACTTTTTCCCAGTTGG (p.Thr2121delinsAsnThrPheSerGlnLeuAla)
NM_170606.3(KMT2C):c.6431C>A (p.Ser2144Tyr)
NM_170606.3(KMT2C):c.6439C>G (p.Gln2147Glu)
NM_170606.3(KMT2C):c.6491G>T (p.Gly2164Val)
NM_170606.3(KMT2C):c.6511G>A (p.Val2171Ile)
NM_170606.3(KMT2C):c.6589C>T (p.Gln2197Ter) rs2093425957
NM_170606.3(KMT2C):c.6887G>T (p.Arg2296Leu)
NM_170606.3(KMT2C):c.7067C>G (p.Pro2356Arg)
NM_170606.3(KMT2C):c.7133C>G (p.Thr2378Arg)
NM_170606.3(KMT2C):c.7170C>G (p.Ile2390Met)
NM_170606.3(KMT2C):c.7207C>T (p.Arg2403Ter) rs767365126
NM_170606.3(KMT2C):c.7258C>G (p.Leu2420Val)
NM_170606.3(KMT2C):c.7631A>G (p.Gln2544Arg)
NM_170606.3(KMT2C):c.7775A>G (p.Asn2592Ser) rs1294128108
NM_170606.3(KMT2C):c.7786C>T (p.Arg2596Trp)
NM_170606.3(KMT2C):c.8011A>G (p.Thr2671Ala)
NM_170606.3(KMT2C):c.8029A>G (p.Ile2677Val)
NM_170606.3(KMT2C):c.8045C>T (p.Ser2682Phe) rs745935927
NM_170606.3(KMT2C):c.8218A>G (p.Thr2740Ala)
NM_170606.3(KMT2C):c.8252C>T (p.Ser2751Leu)
NM_170606.3(KMT2C):c.8284C>G (p.Pro2762Ala)
NM_170606.3(KMT2C):c.8298G>A (p.Met2766Ile)
NM_170606.3(KMT2C):c.8342T>A (p.Ile2781Asn)
NM_170606.3(KMT2C):c.8436A>G (p.Pro2812=)
NM_170606.3(KMT2C):c.8591A>T (p.Asp2864Val)
NM_170606.3(KMT2C):c.8782G>A (p.Asp2928Asn)
NM_170606.3(KMT2C):c.8792A>T (p.Asp2931Val)
NM_170606.3(KMT2C):c.8819C>T (p.Pro2940Leu)
NM_170606.3(KMT2C):c.8849A>G (p.His2950Arg)
NM_170606.3(KMT2C):c.8849A>T (p.His2950Leu)
NM_170606.3(KMT2C):c.8957G>A (p.Gly2986Asp)
NM_170606.3(KMT2C):c.8963A>T (p.Gln2988Leu)
NM_170606.3(KMT2C):c.9259A>G (p.Ile3087Val)
NM_170606.3(KMT2C):c.9291G>A (p.Met3097Ile) rs747180312
NM_170606.3(KMT2C):c.9848G>C (p.Ser3283Thr)
Single allele

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.