ClinVar Miner

List of variants studied for Kleefstra syndrome 2

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ClinVar version:
Total variants: 215
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HGVS dbSNP gnomAD frequency
NM_170606.3(KMT2C):c.8685G>A (p.Gln2895=) rs6464211 0.33944
NM_170606.3(KMT2C):c.4508-12A>T rs28418446 0.01078
NM_170606.3(KMT2C):c.162-17T>A rs187902675 0.00620
NM_170606.3(KMT2C):c.11139C>T (p.Ala3713=) rs140482040 0.00273
NM_170606.3(KMT2C):c.1139G>T (p.Arg380Leu) rs138908625 0.00150
NM_170606.3(KMT2C):c.10513A>G (p.Asn3505Asp) rs140626076 0.00036
NM_170606.3(KMT2C):c.2702T>C (p.Leu901Pro) rs370313067 0.00036
NM_170606.3(KMT2C):c.5171G>T (p.Ser1724Ile) rs138819584 0.00033
NM_170606.3(KMT2C):c.5957G>A (p.Arg1986Gln) rs138373177 0.00024
NM_170606.3(KMT2C):c.2769+5G>T rs73728782 0.00022
NM_170606.3(KMT2C):c.10980G>A (p.Ser3660=) rs201190450 0.00016
NM_170606.3(KMT2C):c.1042G>A (p.Asp348Asn) rs201834857 0.00013
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.12118C>T (p.Leu4040Phe) rs1367557010 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
GRCh37/hg19 7q36.1(chr7:150745923-152373214)x1
NC_000007.13:g.(151871328_151873275)_(151933019_151935791)del
NC_000007.14:g.152052676_152295696del
NC_000007.14:g.152175569_152524553dup
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.1013-2A>G rs751158858
NM_170606.3(KMT2C):c.10144C>T (p.Arg3382Trp)
NM_170606.3(KMT2C):c.10266_10267del (p.Arg3423fs)
NM_170606.3(KMT2C):c.10300dup (p.His3434fs)
NM_170606.3(KMT2C):c.10335G>T (p.Arg3445Ser)
NM_170606.3(KMT2C):c.1038G>A (p.Val346=) rs770240292
NM_170606.3(KMT2C):c.103del (p.Arg35fs)
NM_170606.3(KMT2C):c.10724_10725dup (p.Ile3576fs)
NM_170606.3(KMT2C):c.10789A>G (p.Ile3597Val) rs2092524691
NM_170606.3(KMT2C):c.10812_10815del (p.Lys3605fs) rs1554477105
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.1106T>C (p.Met369Thr)
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.11269_11270del (p.Gln3757fs)
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.11812+2T>C rs2129099779
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.12415C>T (p.Arg4139Ter) rs2091742405
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.12646_12653del (p.Asp4216fs)
NM_170606.3(KMT2C):c.12666+1G>A
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.13198C>T (p.Arg4400Trp) rs144905657
NM_170606.3(KMT2C):c.13273G>A (p.Asp4425Asn)
NM_170606.3(KMT2C):c.13334G>A (p.Gly4445Asp) rs2091357682
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.13894+2T>G
NM_170606.3(KMT2C):c.13966G>A (p.Ala4656Thr)
NM_170606.3(KMT2C):c.14006_14007del (p.Ser4669fs)
NM_170606.3(KMT2C):c.14068C>T (p.Arg4690Ter)
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.162-7del rs376309362
NM_170606.3(KMT2C):c.1665G>T (p.Met555Ile) rs552470432
NM_170606.3(KMT2C):c.1690A>T (p.Lys564Ter) rs1554580083
NM_170606.3(KMT2C):c.1759_1769del (p.Gln587fs)
NM_170606.3(KMT2C):c.1829_1830del (p.Thr610fs) rs1588573059
NM_170606.3(KMT2C):c.1876G>A (p.Glu626Lys) rs2095513181
NM_170606.3(KMT2C):c.1951_1952del (p.Glu651fs) rs1588571802
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.2483del (p.Pro828fs)
NM_170606.3(KMT2C):c.2525C>T (p.Ser842Phe)
NM_170606.3(KMT2C):c.2532+1del rs2129163740
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.2829_2832dup (p.Val945fs)
NM_170606.3(KMT2C):c.2961C>G (p.Tyr987Ter) rs58528565
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.3599C>G (p.Ser1200Ter) rs2129145649
NM_170606.3(KMT2C):c.3619A>G (p.Lys1207Glu) rs2129145634
NM_170606.3(KMT2C):c.3821A>G (p.Lys1274Arg)
NM_170606.3(KMT2C):c.3863G>A (p.Arg1288Gln) rs1345303559
NM_170606.3(KMT2C):c.3902C>T (p.Ser1301Phe)
NM_170606.3(KMT2C):c.4299_4307del (p.Asp1433_Ser1435del) rs1588119681
NM_170606.3(KMT2C):c.4441C>T (p.Arg1481Ter) rs587777073
NM_170606.3(KMT2C):c.4602G>T (p.Gln1534His) rs992987667
NM_170606.3(KMT2C):c.461G>C (p.Arg154Thr)
NM_170606.3(KMT2C):c.4629delinsCC (p.Thr1545fs) rs2129128809
NM_170606.3(KMT2C):c.4766T>C (p.Ile1589Thr) rs985359158
NM_170606.3(KMT2C):c.4845G>A (p.Trp1615Ter)
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.5088dup (p.Ala1697fs) rs2093489078
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.5216del (p.Pro1739fs) rs1554505381
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.5419C>T (p.Gln1807Ter) rs2129121010
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.5716C>T (p.Arg1906Ter)
NM_170606.3(KMT2C):c.577A>G (p.Arg193Gly) rs2096711264
NM_170606.3(KMT2C):c.5937del (p.Lys1980fs)
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.6570_6573del (p.Phe2190fs)
NM_170606.3(KMT2C):c.6589C>T (p.Gln2197Ter) rs2093425957
NM_170606.3(KMT2C):c.6769C>T (p.Arg2257Ter)
NM_170606.3(KMT2C):c.6875del (p.Pro2292fs)
NM_170606.3(KMT2C):c.6887G>T (p.Arg2296Leu)
NM_170606.3(KMT2C):c.6925C>T (p.Gln2309Ter) rs2129119384
NM_170606.3(KMT2C):c.6938_6939del (p.Phe2313fs) rs2129119362
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.7236C>T (p.Pro2412=) rs140215243
NM_170606.3(KMT2C):c.7258C>G (p.Leu2420Val)
NM_170606.3(KMT2C):c.749G>A (p.Trp250Ter)
NM_170606.3(KMT2C):c.7550C>G (p.Ser2517Ter) rs779659766
NM_170606.3(KMT2C):c.7613dup (p.Gln2539fs) rs1554496813
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.8543del (p.Asn2848fs) rs2093235396
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.8849_8850del (p.His2950fs)
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.9262+1G>A
NM_170606.3(KMT2C):c.9291G>A (p.Met3097Ile) rs747180312
NM_170606.3(KMT2C):c.9848G>C (p.Ser3283Thr)
Single allele

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