ClinVar Miner

List of variants in gene EHMT1 reported as uncertain significance by CeGaT Center for Human Genetics Tuebingen

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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.92C>T (p.Pro31Leu) rs769561363 0.00006
NM_024757.5(EHMT1):c.103G>A (p.Asp35Asn) rs371134699 0.00003
NM_024757.5(EHMT1):c.1511A>G (p.Asn504Ser) rs778447794 0.00002
NM_024757.5(EHMT1):c.2187G>A (p.Ser729=) rs753928723 0.00001
NM_024757.5(EHMT1):c.2755G>A (p.Val919Met) rs749976725 0.00001
NM_024757.5(EHMT1):c.2965C>G (p.Leu989Val) rs1217060988 0.00001
NM_024757.5(EHMT1):c.3894A>G (p.Leu1298=) rs886063743 0.00001
NM_024757.5(EHMT1):c.1877A>G (p.Tyr626Cys)
NM_024757.5(EHMT1):c.2207G>A (p.Arg736His) rs1588663770
NM_024757.5(EHMT1):c.233G>C (p.Arg78Thr)
NM_024757.5(EHMT1):c.2476A>C (p.Ile826Leu) rs2137109750
NM_024757.5(EHMT1):c.275C>A (p.Ala92Glu)
NM_024757.5(EHMT1):c.2961C>T (p.Ser987=) rs781254508
NM_024757.5(EHMT1):c.3280T>A (p.Phe1094Ile) rs1588868863
NM_024757.5(EHMT1):c.37G>T (p.Gly13Trp) rs781470751
NM_024757.5(EHMT1):c.3808del (p.Leu1270fs)
NM_024757.5(EHMT1):c.512C>G (p.Thr171Arg) rs374127714
NM_024757.5(EHMT1):c.632T>C (p.Val211Ala) rs764569458
NM_024757.5(EHMT1):c.694G>A (p.Glu232Lys) rs1946813823
NM_024757.5(EHMT1):c.835T>G (p.Phe279Val) rs1588478740

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