ClinVar Miner

List of variants studied for Kleefstra syndrome 1 by Fulgent Genetics

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 7
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HGVS dbSNP
NM_024757.4(EHMT1):c.1081G>A (p.Gly361Ser) rs143891279
NM_024757.4(EHMT1):c.1140G>C (p.Glu380Asp) rs368995503
NM_024757.4(EHMT1):c.1433G>A (p.Gly478Glu) rs376787713
NM_024757.4(EHMT1):c.1814C>T (p.Pro605Leu)
NM_024757.4(EHMT1):c.23C>T (p.Ala8Val) rs375391530
NM_024757.4(EHMT1):c.2642C>T (p.Thr881Ile) rs797045554
NM_024757.4(EHMT1):c.3322G>A (p.Ala1108Thr) rs199780189

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