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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 51

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HGVS	dbSNP	gnomAD frequency
NM_024757.5(EHMT1):c.1061_1062del (p.Glu354fs)	rs1064796085
NM_024757.5(EHMT1):c.1122dup (p.Ser375fs)	rs1554859292
NM_024757.5(EHMT1):c.1262del (p.Ser421fs)	rs1588533423
NM_024757.5(EHMT1):c.1292del (p.Gly431fs)	rs1588533561
NM_024757.5(EHMT1):c.1349_1352del (p.Lys450fs)	rs886042181
NM_024757.5(EHMT1):c.1408C>T (p.Gln470Ter)	rs2136273769
NM_024757.5(EHMT1):c.1420G>T (p.Gly474Ter)	rs1564704133
NM_024757.5(EHMT1):c.1468C>T (p.Arg490Ter)	rs1588553447
NM_024757.5(EHMT1):c.1685_1709dup (p.Leu571fs)	rs1588642071
NM_024757.5(EHMT1):c.181_190delinsCCATT (p.Ser61fs)	rs1554846052
NM_024757.5(EHMT1):c.1858C>T (p.Arg620Ter)	rs137852718
NM_024757.5(EHMT1):c.2198del (p.Lys733fs)	rs1951232337
NM_024757.5(EHMT1):c.2222del (p.Gln741fs)	rs886041797
NM_024757.5(EHMT1):c.2408C>G (p.Ser803Ter)	rs886042018
NM_024757.5(EHMT1):c.2431_2435delinsTGGG (p.Met811fs)	rs886042048
NM_024757.5(EHMT1):c.2498del (p.Asp833fs)	rs1952477688
NM_024757.5(EHMT1):c.2506-2A>G	rs1554888910
NM_024757.5(EHMT1):c.2622G>A (p.Trp874Ter)	rs1057524142
NM_024757.5(EHMT1):c.2704C>T (p.Arg902Ter)	rs886041844
NM_024757.5(EHMT1):c.2712+1G>A	rs1057518849
NM_024757.5(EHMT1):c.2713-1G>A	rs1554895172
NM_024757.5(EHMT1):c.2867+5G>A	rs886039703
NM_024757.5(EHMT1):c.2877_2880del (p.Ser960fs)	rs786205129
NM_024757.5(EHMT1):c.2929C>T (p.Gln977Ter)	rs2137711618
NM_024757.5(EHMT1):c.2950C>T (p.Gln984Ter)	rs1085307843
NM_024757.5(EHMT1):c.2958G>A (p.Trp986Ter)	rs1554896104
NM_024757.5(EHMT1):c.302C>G (p.Ser101Ter)	rs1085307748
NM_024757.5(EHMT1):c.3046C>T (p.Arg1016Ter)	rs1429360126
NM_024757.5(EHMT1):c.3072_3073del (p.Val1026fs)	rs1085307734
NM_024757.5(EHMT1):c.3126_3127del (p.Gln1043fs)	rs1554896575
NM_024757.5(EHMT1):c.3127C>T (p.Gln1043Ter)	rs1064796996
NM_024757.5(EHMT1):c.3258+1del	rs1554897110
NM_024757.5(EHMT1):c.3259-1G>A	rs1554897763
NM_024757.5(EHMT1):c.3271dup (p.Leu1091fs)	rs1954886330
NM_024757.5(EHMT1):c.3342delinsAAG (p.Asn1114fs)	rs886041450
NM_024757.5(EHMT1):c.3502C>T (p.Arg1168Ter)	rs121918301
NM_024757.5(EHMT1):c.3520del (p.Leu1174fs)	rs1955070984
NM_024757.5(EHMT1):c.3524_3530del (p.Phe1175fs)	rs1955071278
NM_024757.5(EHMT1):c.355del (p.Val119fs)	rs1064793748
NM_024757.5(EHMT1):c.3649C>T (p.Gln1217Ter)	rs1554908411
NM_024757.5(EHMT1):c.40dup (p.Glu14fs)	rs1564618717
NM_024757.5(EHMT1):c.417dup (p.Thr140fs)	rs1131691715
NM_024757.5(EHMT1):c.508C>T (p.Gln170Ter)	rs1554846766
NM_024757.5(EHMT1):c.642+1G>C	rs2135513350
NM_024757.5(EHMT1):c.642+1G>T
NM_024757.5(EHMT1):c.673C>T (p.Arg225Ter)	rs879255531
NM_024757.5(EHMT1):c.682del (p.Arg228fs)	rs1554852597
NM_024757.5(EHMT1):c.733G>T (p.Gly245Ter)	rs1554852648
NM_024757.5(EHMT1):c.736C>T (p.Arg246Ter)	rs1474604202
NM_024757.5(EHMT1):c.756del (p.Phe253fs)	rs1554852664
NM_024757.5(EHMT1):c.756dup (p.Phe253fs)	rs1554852664

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