ClinVar Miner

List of variants studied for Kleefstra syndrome 1 by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 94
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HGVS dbSNP
NM_024757.4(EHMT1):c.*1179G>T rs533483370
NM_024757.5(EHMT1):c.*1018T>G rs542383104
NM_024757.5(EHMT1):c.*1025T>G rs562175291
NM_024757.5(EHMT1):c.*1025dup rs201292825
NM_024757.5(EHMT1):c.*17G>A rs886063744
NM_024757.5(EHMT1):c.*204C>T rs886063745
NM_024757.5(EHMT1):c.*226G>A rs571061996
NM_024757.5(EHMT1):c.*551T>G rs886063746
NM_024757.5(EHMT1):c.*663G>A rs750578794
NM_024757.5(EHMT1):c.*667C>T rs79878790
NM_024757.5(EHMT1):c.*870T>G rs756114316
NM_024757.5(EHMT1):c.*971dup rs563102749
NM_024757.5(EHMT1):c.1044G>A (p.Ser348=) rs1129767
NM_024757.5(EHMT1):c.1089T>C (p.Gly363=) rs1129768
NM_024757.5(EHMT1):c.1148C>T (p.Ser383Leu) rs771654748
NM_024757.5(EHMT1):c.1149G>A (p.Ser383=) rs140345462
NM_024757.5(EHMT1):c.1160G>A (p.Arg387His) rs776502547
NM_024757.5(EHMT1):c.1162G>A (p.Ala388Thr) rs11137198
NM_024757.5(EHMT1):c.1181A>C (p.Glu394Ala) rs773281152
NM_024757.5(EHMT1):c.1249-11T>C rs561072157
NM_024757.5(EHMT1):c.1249-9G>T rs73669157
NM_024757.5(EHMT1):c.128C>G (p.Ala43Gly) rs79514677
NM_024757.5(EHMT1):c.1299C>T (p.Thr433=) rs374367377
NM_024757.5(EHMT1):c.129A>T (p.Ala43=) rs76684726
NM_024757.5(EHMT1):c.1360G>A (p.Gly454Ser) rs774046148
NM_024757.5(EHMT1):c.1368C>T (p.Leu456=) rs45450992
NM_024757.5(EHMT1):c.1369+9C>T rs146125583
NM_024757.5(EHMT1):c.1402G>A (p.Ala468Thr) rs202097707
NM_024757.5(EHMT1):c.148G>A (p.Ala50Thr) rs78104547
NM_024757.5(EHMT1):c.1501+13G>T rs3125794
NM_024757.5(EHMT1):c.150G>A (p.Ala50=) rs371344592
NM_024757.5(EHMT1):c.1513G>A (p.Gly505Ser) rs757679895
NM_024757.5(EHMT1):c.153C>T (p.Asp51=) rs765396242
NM_024757.5(EHMT1):c.159G>T (p.Glu53Asp) rs202066668
NM_024757.5(EHMT1):c.183C>T (p.Ser61=) rs774448433
NM_024757.5(EHMT1):c.1869C>T (p.Asn623=) rs7868455
NM_024757.5(EHMT1):c.1931A>C (p.Lys644Thr) rs767536068
NM_024757.5(EHMT1):c.1947G>A (p.Ser649=) rs139206060
NM_024757.5(EHMT1):c.1950C>T (p.Thr650=) rs199839806
NM_024757.5(EHMT1):c.2127C>T (p.Pro709=) rs150501660
NM_024757.5(EHMT1):c.2142A>G (p.Gly714=) rs758845539
NM_024757.5(EHMT1):c.2167G>A (p.Ala723Thr) rs886063736
NM_024757.5(EHMT1):c.2175C>T (p.Ile725=) rs527754873
NM_024757.5(EHMT1):c.2186C>T (p.Ser729Leu) rs398124404
NM_024757.5(EHMT1):c.2192+11A>T rs759729046
NM_024757.5(EHMT1):c.251G>A (p.Gly84Asp) rs142887098
NM_024757.5(EHMT1):c.2656G>A (p.Val886Met) rs146269774
NM_024757.5(EHMT1):c.2664C>T (p.Leu888=) rs200849773
NM_024757.5(EHMT1):c.2695A>G (p.Ile899Val) rs144085805
NM_024757.5(EHMT1):c.2712+13C>T rs370446866
NM_024757.5(EHMT1):c.2767G>A (p.Glu923Lys) rs367643028
NM_024757.5(EHMT1):c.2882G>A (p.Arg961Gln) rs886063737
NM_024757.5(EHMT1):c.2922G>A (p.Thr974=) rs748716122
NM_024757.5(EHMT1):c.3000C>T (p.Pro1000=) rs35943616
NM_024757.5(EHMT1):c.3011G>A (p.Ser1004Asn) rs138283222
NM_024757.5(EHMT1):c.3035+3G>A rs765407306
NM_024757.5(EHMT1):c.3036G>C (p.Arg1012Ser) rs886063738
NM_024757.5(EHMT1):c.3087G>A (p.Val1029=) rs11137244
NM_024757.5(EHMT1):c.3107G>T (p.Ser1036Ile) rs369941047
NM_024757.5(EHMT1):c.3123C>G (p.Val1041=) rs141527497
NM_024757.5(EHMT1):c.316C>G (p.Gln106Glu) rs144603232
NM_024757.5(EHMT1):c.3180+10G>T rs113676865
NM_024757.5(EHMT1):c.3214A>G (p.Asn1072Asp) rs886063739
NM_024757.5(EHMT1):c.324C>T (p.His108=) rs574402576
NM_024757.5(EHMT1):c.3258+14C>T rs886063740
NM_024757.5(EHMT1):c.3375-15CT[2] rs112664025
NM_024757.5(EHMT1):c.3375-9A>C rs73578877
NM_024757.5(EHMT1):c.3377C>T (p.Ala1126Val) rs560251933
NM_024757.5(EHMT1):c.3462-14C>T rs186747522
NM_024757.5(EHMT1):c.3541-13TC[3] rs10667884
NM_024757.5(EHMT1):c.3555C>T (p.Tyr1185=) rs398124407
NM_024757.5(EHMT1):c.363C>T (p.Gly121=) rs144352877
NM_024757.5(EHMT1):c.3641T>C (p.Met1214Thr) rs781134719
NM_024757.5(EHMT1):c.3716+4C>T rs375271697
NM_024757.5(EHMT1):c.3735C>T (p.Arg1245=) rs141797498
NM_024757.5(EHMT1):c.3774C>T (p.Cys1258=) rs371136319
NM_024757.5(EHMT1):c.3803C>G (p.Ala1268Gly) rs886063741
NM_024757.5(EHMT1):c.3834C>A (p.Ala1278=) rs886063742
NM_024757.5(EHMT1):c.3848A>C (p.Glu1283Ala) rs398124408
NM_024757.5(EHMT1):c.3894A>G (p.Leu1298=) rs886063743
NM_024757.5(EHMT1):c.405G>T (p.Gln135His) rs200982880
NM_024757.5(EHMT1):c.432C>T (p.Ala144=) rs139461232
NM_024757.5(EHMT1):c.438G>A (p.Ser146=) rs151008340
NM_024757.5(EHMT1):c.444T>C (p.Pro148=) rs3812497
NM_024757.5(EHMT1):c.480C>T (p.Gly160=) rs150135875
NM_024757.5(EHMT1):c.526C>T (p.Pro176Ser) rs34704821
NM_024757.5(EHMT1):c.533C>A (p.Thr178Asn) rs777497639
NM_024757.5(EHMT1):c.551C>T (p.Ala184Val) rs886063735
NM_024757.5(EHMT1):c.575C>T (p.Pro192Leu) rs35285441
NM_024757.5(EHMT1):c.576G>A (p.Pro192=) rs574514175
NM_024757.5(EHMT1):c.631G>A (p.Val211Ile) rs201528122
NM_024757.5(EHMT1):c.633C>T (p.Val211=) rs751159756
NM_024757.5(EHMT1):c.737G>A (p.Arg246Gln) rs144871446
NM_024757.5(EHMT1):c.905A>G (p.Lys302Arg) rs565065320

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