ClinVar Miner

List of variants reported as pathogenic for Kleefstra syndrome

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 120
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HGVS dbSNP gnomAD frequency
NM_024757.5(EHMT1):c.2842C>T (p.Arg948Trp) rs368702408 0.00001
GRCh37/hg19 7q36.1(chr7:150745923-152373214)x1
NC_000007.14:g.152052676_152295696del
NC_000009.11:g.(?_138645763)_(140729425_?)del
NC_000009.11:g.(?_139018777)_(141018984_?)del
NC_000009.11:g.(?_140040158)_(141016451_?)del
NC_000009.11:g.(?_140513481)_(140513521_?)del
NC_000009.11:g.(?_140513481)_(140657292_?)del
NC_000009.11:g.(?_140513481)_(141016451_?)del
NC_000009.11:g.(?_140605399)_(140729425_?)del
NC_000009.11:g.(?_140605399)_(140773631_?)del
NC_000009.11:g.(?_140622781)_(140623001_?)del
NC_000009.11:g.(?_140622791)_(141016451_?)del
NC_000009.11:g.(?_140637803)_(140638562_?)del
NC_000009.11:g.(?_140646763)_(140729425_?)del
NC_000009.11:g.(?_140646763)_(140881326_?)del
NC_000009.11:g.(?_140693245)_(140729405_?)del
NC_000009.11:g.(?_140705893)_(140706087_?)del
NC_000009.11:g.(?_140707818)_(141016451_?)del
NC_000009.12:g.(?_137139467)_(137834973_?)del
NC_000009.12:g.137729445_137745564dup
NM_002571.4(PAEP):c.311-444_*248del
NM_024757.5(EHMT1):c.1051del (p.Asp351fs)
NM_024757.5(EHMT1):c.1058C>G (p.Ser353Ter)
NM_024757.5(EHMT1):c.1061_1062del (p.Glu354fs) rs1064796085
NM_024757.5(EHMT1):c.1292_1296del (p.Gly431fs) rs2136218711
NM_024757.5(EHMT1):c.1413_1425del (p.Pro473fs) rs137852715
NM_024757.5(EHMT1):c.1434_1435del (p.Tyr479fs) rs1554867189
NM_024757.5(EHMT1):c.1468C>T (p.Arg490Ter) rs1588553447
NM_024757.5(EHMT1):c.1495del (p.Ala499fs)
NM_024757.5(EHMT1):c.1501+1del rs2136274853
NM_024757.5(EHMT1):c.1502-2A>G rs2136355927
NM_024757.5(EHMT1):c.1588C>T (p.Arg530Ter) rs1554871138
NM_024757.5(EHMT1):c.1597del (p.Thr533fs) rs1949929359
NM_024757.5(EHMT1):c.162del (p.Asn55fs) rs2135501951
NM_024757.5(EHMT1):c.1647+2T>C rs1057518913
NM_024757.5(EHMT1):c.1792-21_1800del
NM_024757.5(EHMT1):c.1800dup (p.Met601fs)
NM_024757.5(EHMT1):c.1858C>T (p.Arg620Ter) rs137852718
NM_024757.5(EHMT1):c.2018+1G>A rs1950997931
NM_024757.5(EHMT1):c.2018+1G>C rs1950997931
NM_024757.5(EHMT1):c.2079dup (p.Glu694fs) rs1951085667
NM_024757.5(EHMT1):c.2099dup (p.Pro701fs)
NM_024757.5(EHMT1):c.2161del (p.Glu721fs) rs2136712996
NM_024757.5(EHMT1):c.2214_2230dup (p.Phe744fs) rs1554880275
NM_024757.5(EHMT1):c.2224del (p.Leu742fs) rs1564744631
NM_024757.5(EHMT1):c.2275+4del
NM_024757.5(EHMT1):c.2426C>T (p.Pro809Leu) rs587780332
NM_024757.5(EHMT1):c.2505+1G>A
NM_024757.5(EHMT1):c.2566C>T (p.Gln856Ter) rs1588770875
NM_024757.5(EHMT1):c.2608-1G>A rs1588784791
NM_024757.5(EHMT1):c.2625del (p.Pro876_Met877insTer) rs2137381305
NM_024757.5(EHMT1):c.2704C>T (p.Arg902Ter) rs886041844
NM_024757.5(EHMT1):c.2712+1G>A rs1057518849
NM_024757.5(EHMT1):c.2725T>C (p.Cys909Arg)
NM_024757.5(EHMT1):c.2799del (p.His933fs)
NM_024757.5(EHMT1):c.2825dup (p.Leu943fs) rs2137672729
NM_024757.5(EHMT1):c.2863_2864del (p.Val955fs) rs137852721
NM_024757.5(EHMT1):c.2867dup (p.Leu957fs)
NM_024757.5(EHMT1):c.2877_2880del (p.Ser960fs) rs786205129
NM_024757.5(EHMT1):c.294_297del (p.Arg99fs)
NM_024757.5(EHMT1):c.2968C>T (p.Gln990Ter)
NM_024757.5(EHMT1):c.2976del (p.Ser992fs) rs1588854011
NM_024757.5(EHMT1):c.2995del (p.Ala999fs)
NM_024757.5(EHMT1):c.3000del (p.Asp1001fs) rs1954627505
NM_024757.5(EHMT1):c.3012_3016del (p.Pro1005fs) rs2137714332
NM_024757.5(EHMT1):c.3046C>T (p.Arg1016Ter) rs1429360126
NM_024757.5(EHMT1):c.3072_3073del (p.Val1026fs) rs1085307734
NM_024757.5(EHMT1):c.3218G>A (p.Cys1073Tyr) rs137852726
NM_024757.5(EHMT1):c.3229C>T (p.Gln1077Ter) rs137852725
NM_024757.5(EHMT1):c.3310G>T (p.Glu1104Ter) rs886041093
NM_024757.5(EHMT1):c.3331T>A (p.Cys1111Ser)
NM_024757.5(EHMT1):c.3332G>C (p.Cys1111Ser)
NM_024757.5(EHMT1):c.3393C>A (p.Tyr1131Ter) rs2132792568
NM_024757.5(EHMT1):c.3413G>A (p.Trp1138Ter) rs886037776
NM_024757.5(EHMT1):c.3443del (p.Pro1148fs) rs1588875719
NM_024757.5(EHMT1):c.344_345del (p.Val115fs)
NM_024757.5(EHMT1):c.3459C>T (p.Cys1153=) rs2132793967
NM_024757.5(EHMT1):c.3462-1G>A rs1955068468
NM_024757.5(EHMT1):c.346C>T (p.Gln116Ter)
NM_024757.5(EHMT1):c.3482C>G (p.Ser1161Ter) rs2132809199
NM_024757.5(EHMT1):c.3502C>T (p.Arg1168Ter) rs121918301
NM_024757.5(EHMT1):c.3579del (p.Asn1194fs) rs2133152290
NM_024757.5(EHMT1):c.3709C>T (p.Gln1237Ter) rs1325669112
NM_024757.5(EHMT1):c.391del (p.Ala131fs) rs797045043
NM_024757.5(EHMT1):c.40del (p.Glu14fs) rs1564618717
NM_024757.5(EHMT1):c.40dup (p.Glu14fs) rs1564618717
NM_024757.5(EHMT1):c.508C>T (p.Gln170Ter) rs1554846766
NM_024757.5(EHMT1):c.508del (p.Gln170fs) rs1945392174
NM_024757.5(EHMT1):c.575_581del (p.Pro192fs) rs2135511963
NM_024757.5(EHMT1):c.596dup (p.Val200fs)
NM_024757.5(EHMT1):c.673C>T (p.Arg225Ter) rs879255531
NM_024757.5(EHMT1):c.719dup (p.Asn240fs)
NM_024757.5(EHMT1):c.736C>T (p.Arg246Ter) rs1474604202
NM_024757.5(EHMT1):c.784C>T (p.Gln262Ter) rs2135784846
NM_024757.5(EHMT1):c.823+2T>G
NM_024757.5(EHMT1):c.871C>T (p.Arg291Ter) rs137852714
NM_170606.3(KMT2C):c.10266_10267del (p.Arg3423fs)
NM_170606.3(KMT2C):c.103del (p.Arg35fs)
NM_170606.3(KMT2C):c.10724_10725dup (p.Ile3576fs)
NM_170606.3(KMT2C):c.10812_10815del (p.Lys3605fs) rs1554477105
NM_170606.3(KMT2C):c.12415C>T (p.Arg4139Ter) rs2091742405
NM_170606.3(KMT2C):c.14006_14007del (p.Ser4669fs)
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.1951_1952del (p.Glu651fs) rs1588571802
NM_170606.3(KMT2C):c.2532+1del rs2129163740
NM_170606.3(KMT2C):c.2829_2832dup (p.Val945fs)
NM_170606.3(KMT2C):c.3462del (p.Leu1155_Val1156insTer) rs1588343792
NM_170606.3(KMT2C):c.4441C>T (p.Arg1481Ter) rs587777073
NM_170606.3(KMT2C):c.4845G>A (p.Trp1615Ter)
NM_170606.3(KMT2C):c.5216del (p.Pro1739fs) rs1554505381
NM_170606.3(KMT2C):c.5419C>T (p.Gln1807Ter) rs2129121010
NM_170606.3(KMT2C):c.5716C>T (p.Arg1906Ter)
NM_170606.3(KMT2C):c.6570_6573del (p.Phe2190fs)
NM_170606.3(KMT2C):c.6938_6939del (p.Phe2313fs) rs2129119362
NM_170606.3(KMT2C):c.7550C>G (p.Ser2517Ter) rs779659766
NM_170606.3(KMT2C):c.8543del (p.Asn2848fs) rs2093235396
NM_170606.3(KMT2C):c.8849_8850del (p.His2950fs)

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