List of variants in gene EHMT1 reported as likely pathogenic for not provided

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_024757.5(EHMT1):c.611G>A (p.Arg204His)	rs786205601	0.00001
NM_024757.5(EHMT1):c.1438dup (p.Met480fs)
NM_024757.5(EHMT1):c.2426C>T (p.Pro809Leu)	rs587780332
NM_024757.5(EHMT1):c.2712+1G>C	rs1057518849
NM_024757.5(EHMT1):c.3459C>T (p.Cys1153=)	rs2132793967
NM_024757.5(EHMT1):c.3462-10C>G	rs752178081
NM_024757.5(EHMT1):c.3626_3631dup (p.Pro1209_Val1210dup)	rs1554908367
NM_024757.5(EHMT1):c.3676TTC[1] (p.Phe1227del)	rs1956459967
NM_024757.5(EHMT1):c.546dup (p.Ser183fs)	rs2135511329
NM_024757.5(EHMT1):c.555del (p.Asp185fs)	rs1945399452
NM_024757.5(EHMT1):c.643-2A>G	rs2135782623
NM_024757.5(EHMT1):c.823+3A>G

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