ClinVar Miner

List of variants reported as pathogenic for Kleefstra syndrome 1

Included ClinVar conditions (2):
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Total variants: 24
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HGVS dbSNP
NM_024757.4(EHMT1):c.1413_1425delGGCACCAGGAGAC (p.Pro473Glnfs) rs137852715
NM_024757.4(EHMT1):c.1434_1435delGT (p.Tyr479Hisfs) rs1554867189
NM_024757.4(EHMT1):c.1533_1536del (p.Asp512Alafs) rs137852716
NM_024757.4(EHMT1):c.1810C>T (p.Gln604Ter) rs137852717
NM_024757.4(EHMT1):c.1858C>T (p.Arg620Ter) rs137852718
NM_024757.4(EHMT1):c.2028dup (p.Pro677Alafs) rs1554879411
NM_024757.4(EHMT1):c.2193-1G>C rs137852720
NM_024757.4(EHMT1):c.2214_2230dup (p.Phe744Serfs) rs1554880275
NM_024757.4(EHMT1):c.2224delC (p.Leu742Cysfs)
NM_024757.4(EHMT1):c.2863_2864delGT (p.Val955Argfs) rs137852721
NM_024757.4(EHMT1):c.2868-1G>A rs137852722
NM_024757.4(EHMT1):c.2877_2880delTTCT (p.Ser960Glyfs) rs786205129
NM_024757.4(EHMT1):c.3046C>T (p.Arg1016Ter)
NM_024757.4(EHMT1):c.3180+1G>T rs137852724
NM_024757.4(EHMT1):c.3181-80_3233del rs1554896943
NM_024757.4(EHMT1):c.3218G>A (p.Cys1073Tyr) rs137852726
NM_024757.4(EHMT1):c.3229C>T (p.Gln1077Ter) rs137852725
NM_024757.4(EHMT1):c.3413G>A (p.Trp1138Ter) rs886037776
NM_024757.4(EHMT1):c.3502C>T (p.Arg1168Ter) rs121918301
NM_024757.4(EHMT1):c.3589C>T (p.Arg1197Trp) rs137852727
NM_024757.4(EHMT1):c.391delG (p.Ala131Profs) rs797045043
NM_024757.4(EHMT1):c.673C>T (p.Arg225Ter) rs879255531
NM_024757.4(EHMT1):c.871C>T (p.Arg291Ter) rs137852714
NM_024757.4:c.1495del

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