ClinVar Miner

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

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Gene type:
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Total variants: 86
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HGVS dbSNP gnomAD frequency
NM_024757.5(EHMT1):c.1369+9C>T rs146125583 0.00794
NM_024757.5(EHMT1):c.480C>T (p.Gly160=) rs150135875 0.00193
NM_024757.5(EHMT1):c.3735C>T (p.Arg1245=) rs141797498 0.00190
NM_024757.5(EHMT1):c.823+26T>C rs41309984 0.00157
NM_024757.5(EHMT1):c.2040G>A (p.Ser680=) rs150451099 0.00146
NM_024757.5(EHMT1):c.737G>A (p.Arg246Gln) rs144871446 0.00092
NM_024757.5(EHMT1):c.251G>A (p.Gly84Asp) rs142887098 0.00073
NM_024757.5(EHMT1):c.363C>T (p.Gly121=) rs144352877 0.00063
NM_024757.5(EHMT1):c.85+35G>A rs151087743 0.00046
NM_024757.5(EHMT1):c.204T>C (p.Asn68=) rs3812496 0.00043
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.142A>G (p.Met48Val) rs145206240 0.00026
NM_024757.5(EHMT1):c.32C>T (p.Ala11Val) rs200636818 0.00022
NM_024757.5(EHMT1):c.2695A>G (p.Ile899Val) rs144085805 0.00020
NM_024757.5(EHMT1):c.2970G>T (p.Gln990His) rs143669310 0.00018
NM_024757.5(EHMT1):c.1135A>G (p.Lys379Glu) rs146711478 0.00014
NM_024757.5(EHMT1):c.2025C>T (p.Ala675=) rs367662089 0.00014
NM_024757.5(EHMT1):c.184G>A (p.Asp62Asn) rs112003143 0.00009
NM_024757.5(EHMT1):c.3774C>T (p.Cys1258=) rs371136319 0.00009
NM_024757.5(EHMT1):c.3848A>C (p.Glu1283Ala) rs398124408 0.00009
NM_024757.5(EHMT1):c.2595C>T (p.Asp865=) rs780742937 0.00007
NM_024757.5(EHMT1):c.3716+4C>T rs375271697 0.00007
NM_024757.5(EHMT1):c.1402G>A (p.Ala468Thr) rs202097707 0.00006
NM_024757.5(EHMT1):c.188C>T (p.Ala63Val) rs138292762 0.00006
NM_024757.5(EHMT1):c.1950C>T (p.Thr650=) rs199839806 0.00006
NM_024757.5(EHMT1):c.92C>T (p.Pro31Leu) rs769561363 0.00006
NM_024757.5(EHMT1):c.1054G>A (p.Asp352Asn) rs778201214 0.00004
NM_024757.5(EHMT1):c.2927T>G (p.Leu976Arg) rs147956904 0.00004
NM_024757.5(EHMT1):c.3225C>T (p.Cys1075=) rs779760321 0.00004
NM_024757.5(EHMT1):c.529G>C (p.Ala177Pro) rs182595609 0.00004
NM_024757.5(EHMT1):c.103G>A (p.Asp35Asn) rs371134699 0.00003
NM_024757.5(EHMT1):c.159G>T (p.Glu53Asp) rs202066668 0.00003
NM_024757.5(EHMT1):c.1710G>A (p.Pro570=) rs746769518 0.00003
NM_024757.5(EHMT1):c.1951G>A (p.Val651Met) rs188452845 0.00003
NM_024757.5(EHMT1):c.3186C>T (p.Cys1062=) rs374547003 0.00003
NM_024757.5(EHMT1):c.3417C>T (p.Gly1139=) rs747339529 0.00003
NM_024757.5(EHMT1):c.3684C>T (p.Ser1228=) rs777132995 0.00003
NM_024757.5(EHMT1):c.369C>T (p.Asn123=) rs770086341 0.00003
NM_024757.5(EHMT1):c.1481T>A (p.Ile494Asn) rs1344004596 0.00002
NM_024757.5(EHMT1):c.1511A>G (p.Asn504Ser) rs778447794 0.00002
NM_024757.5(EHMT1):c.2142A>G (p.Gly714=) rs758845539 0.00002
NM_024757.5(EHMT1):c.2973G>A (p.Met991Ile) rs755184801 0.00002
NM_024757.5(EHMT1):c.3042C>T (p.Ile1014=) rs143083438 0.00002
NM_024757.5(EHMT1):c.1050G>A (p.Glu350=) rs149871742 0.00001
NM_024757.5(EHMT1):c.2187G>A (p.Ser729=) rs753928723 0.00001
NM_024757.5(EHMT1):c.223G>C (p.Asp75His) rs777679735 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.575C>T (p.Pro192Leu) rs35285441 0.00001
NM_024757.5(EHMT1):c.102C>T (p.Ala34=) rs202208554
NM_024757.5(EHMT1):c.1061_1062del (p.Glu354fs) rs1064796085
NM_024757.5(EHMT1):c.1339A>C (p.Arg447=)
NM_024757.5(EHMT1):c.1654C>A (p.Arg552=)
NM_024757.5(EHMT1):c.1792-27_1792-26del
NM_024757.5(EHMT1):c.1877A>G (p.Tyr626Cys)
NM_024757.5(EHMT1):c.22-43600_22-43598del
NM_024757.5(EHMT1):c.2207G>A (p.Arg736His) rs1588663770
NM_024757.5(EHMT1):c.233G>C (p.Arg78Thr)
NM_024757.5(EHMT1):c.2383-2064C>T
NM_024757.5(EHMT1):c.2426C>T (p.Pro809Leu) rs587780332
NM_024757.5(EHMT1):c.2476A>C (p.Ile826Leu) rs2137109750
NM_024757.5(EHMT1):c.2498del (p.Asp833fs) rs1952477688
NM_024757.5(EHMT1):c.2505+1146T>G
NM_024757.5(EHMT1):c.2712+1G>A rs1057518849
NM_024757.5(EHMT1):c.2712+2265C>T
NM_024757.5(EHMT1):c.275C>A (p.Ala92Glu)
NM_024757.5(EHMT1):c.2961C>T (p.Ser987=) rs781254508
NM_024757.5(EHMT1):c.3123C>G (p.Val1041=) rs141527497
NM_024757.5(EHMT1):c.3180+10G>A rs113676865
NM_024757.5(EHMT1):c.3280T>A (p.Phe1094Ile) rs1588868863
NM_024757.5(EHMT1):c.3676TTC[1] (p.Phe1227del) rs1956459967
NM_024757.5(EHMT1):c.37G>T (p.Gly13Trp) rs781470751
NM_024757.5(EHMT1):c.3808del (p.Leu1270fs)
NM_024757.5(EHMT1):c.390G>A (p.Pro130=) rs144323841
NM_024757.5(EHMT1):c.390G>T (p.Pro130=) rs144323841
NM_024757.5(EHMT1):c.432C>T (p.Ala144=) rs139461232
NM_024757.5(EHMT1):c.508C>T (p.Gln170Ter) rs1554846766
NM_024757.5(EHMT1):c.512C>A (p.Thr171Lys)
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.642+22C>G rs138785890
NM_024757.5(EHMT1):c.642+22C>T
NM_024757.5(EHMT1):c.694G>A (p.Glu232Lys) rs1946813823
NM_024757.5(EHMT1):c.835T>G (p.Phe279Val) rs1588478740

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