ClinVar Miner

List of variants reported as likely benign 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: 39
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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.*226G>A rs571061996
NM_024757.5(EHMT1):c.*667C>T rs79878790
NM_024757.5(EHMT1):c.*971dup rs563102749
NM_024757.5(EHMT1):c.1149G>A (p.Ser383=) rs140345462
NM_024757.5(EHMT1):c.1162G>A (p.Ala388Thr) rs11137198
NM_024757.5(EHMT1):c.1249-9G>T rs73669157
NM_024757.5(EHMT1):c.1369+9C>T rs146125583
NM_024757.5(EHMT1):c.1402G>A (p.Ala468Thr) rs202097707
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.2186C>T (p.Ser729Leu) rs398124404
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.2695A>G (p.Ile899Val) rs144085805
NM_024757.5(EHMT1):c.2767G>A (p.Glu923Lys) rs367643028
NM_024757.5(EHMT1):c.3011G>A (p.Ser1004Asn) rs138283222
NM_024757.5(EHMT1):c.316C>G (p.Gln106Glu) rs144603232
NM_024757.5(EHMT1):c.3180+10G>T rs113676865
NM_024757.5(EHMT1):c.324C>T (p.His108=) rs574402576
NM_024757.5(EHMT1):c.3462-14C>T rs186747522
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.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.432C>T (p.Ala144=) rs139461232
NM_024757.5(EHMT1):c.438G>A (p.Ser146=) rs151008340
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.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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