ClinVar Miner

List of variants in gene EHMT1 reported as uncertain significance by Genetic Services Laboratory, University of Chicago

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Gene type:
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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_024757.5(EHMT1):c.1369+9C>T rs146125583 0.00794
NM_024757.5(EHMT1):c.1865A>G (p.Asn622Ser) rs184814386 0.00034
NM_024757.5(EHMT1):c.271A>T (p.Ile91Leu) rs144949902 0.00034
NM_024757.5(EHMT1):c.576G>A (p.Pro192=) rs574514175 0.00029
NM_024757.5(EHMT1):c.3198C>T (p.Asp1066=) rs367688971 0.00022
NM_024757.5(EHMT1):c.905A>G (p.Lys302Arg) rs565065320 0.00022
NM_024757.5(EHMT1):c.150G>A (p.Ala50=) rs371344592 0.00009
NM_024757.5(EHMT1):c.309G>A (p.Ala103=) rs138824805 0.00005
NM_024757.5(EHMT1):c.2642C>T (p.Thr881Ile) rs797045554 0.00003
NM_024757.5(EHMT1):c.1094A>G (p.Glu365Gly) rs797045552
NM_024757.5(EHMT1):c.2010A>T (p.Thr670=) rs370681959
NM_024757.5(EHMT1):c.2011A>G (p.Thr671Ala) rs797045553
NM_024757.5(EHMT1):c.2368C>T (p.His790Tyr) rs1554882071
NM_024757.5(EHMT1):c.2426C>T (p.Pro809Leu) rs587780332
NM_024757.5(EHMT1):c.2839G>A (p.Ala947Thr) rs797045555
NM_024757.5(EHMT1):c.3123C>A (p.Val1041=) rs141527497
NM_024757.5(EHMT1):c.3374+9C>G rs765227211
NM_024757.5(EHMT1):c.35G>C (p.Arg12Thr) rs777999570
NM_024757.5(EHMT1):c.3864C>T (p.Asp1288=) rs797045556
NM_024757.5(EHMT1):c.981+7G>A rs797045557

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