ClinVar Miner

List of variants reported as likely benign for Kleefstra syndrome 1 by Invitae

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 18
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HGVS dbSNP
NM_024757.5(EHMT1):c.102C>T (p.Ala34=) rs202208554
NM_024757.5(EHMT1):c.2181C>T (p.Leu727=) rs377163037
NM_024757.5(EHMT1):c.276G>A (p.Ala92=) rs376810828
NM_024757.5(EHMT1):c.2865C>T (p.Val955=) rs749354858
NM_024757.5(EHMT1):c.2937G>A (p.Ala979=) rs564664932
NM_024757.5(EHMT1):c.2994G>C (p.Ser998=) rs778296046
NM_024757.5(EHMT1):c.3181-8C>T rs1554896993
NM_024757.5(EHMT1):c.3183C>T (p.Tyr1061=) rs1554896995
NM_024757.5(EHMT1):c.3321C>T (p.His1107=) rs781426172
NM_024757.5(EHMT1):c.33G>A (p.Ala11=) rs754740754
NM_024757.5(EHMT1):c.342T>C (p.Phe114=) rs1554846429
NM_024757.5(EHMT1):c.3522C>T (p.Leu1174=) rs748135858
NM_024757.5(EHMT1):c.3726T>C (p.Tyr1242=) rs1160822224
NM_024757.5(EHMT1):c.3747C>T (p.Ile1249=) rs1554908854
NM_024757.5(EHMT1):c.498C>T (p.Ser166=) rs146037252
NM_024757.5(EHMT1):c.624G>A (p.Pro208=) rs759629407
NM_024757.5(EHMT1):c.85+9G>A rs566701810
NM_024757.5(EHMT1):c.900T>C (p.Pro300=) rs1554858785

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