ClinVar Miner

List of variants in gene EHMT1, LOC130003148 studied for Inborn genetic diseases

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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 3

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HGVS	dbSNP	gnomAD frequency
NM_024757.5(EHMT1):c.1540C>G (p.Leu514Val)	rs748816301	0.00001
NM_024757.5(EHMT1):c.1580C>T (p.Pro527Leu)	rs759763956
NM_024757.5(EHMT1):c.1590_1607dup (p.Glu531_Ala536dup)	rs1949928538

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