ClinVar Miner

Variants in gene EHMT1 with conflicting interpretations

See also:
Y axis minimum submission review status: Y axis collection method:
X axis minimum submission review status: X axis collection method:
Minimum conflict level:
Gene type:
ClinVar version:

If a variant has more than two submissions, it may have multiple conflicts and therefore be counted in more than one conflict column. If this is the case, the "Variants with any kind of conflict" cell will be less than the sum of the conflicted variants cells to its left.

Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any conflict
1813 70 0 50 57 0 2 100

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 0 5 1 0 0
likely pathogenic 5 0 1 0 0
uncertain significance 1 1 0 41 24
likely benign 0 0 41 0 45
benign 0 0 24 45 0

All variants with conflicting interpretations #

Total variants: 100
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_024757.5(EHMT1):c.1089T>C (p.Gly363=) rs1129768 0.49865
NM_024757.5(EHMT1):c.444T>C (p.Pro148=) rs3812497 0.23632
NM_024757.5(EHMT1):c.1044G>A (p.Ser348=) rs1129767 0.14787
NM_024757.5(EHMT1):c.3375-9A>C rs73578877 0.14146
NM_024757.5(EHMT1):c.3000C>T (p.Pro1000=) rs35943616 0.10540
NM_024757.5(EHMT1):c.1368C>T (p.Leu456=) rs45450992 0.07198
NM_024757.5(EHMT1):c.1869C>T (p.Asn623=) rs7868455 0.04901
NM_024757.5(EHMT1):c.3087G>A (p.Val1029=) rs11137244 0.04812
NM_024757.5(EHMT1):c.129A>T (p.Ala43=) rs76684726 0.04476
NM_024757.5(EHMT1):c.128C>G (p.Ala43Gly) rs79514677 0.02177
NM_024757.5(EHMT1):c.1162G>A (p.Ala388Thr) rs11137198 0.01217
NM_024757.5(EHMT1):c.526C>T (p.Pro176Ser) rs34704821 0.00856
NM_024757.5(EHMT1):c.1369+9C>T rs146125583 0.00794
NM_024757.5(EHMT1):c.1249-9G>T rs73669157 0.00552
NM_024757.5(EHMT1):c.316C>G (p.Gln106Glu) rs144603232 0.00489
NM_024757.5(EHMT1):c.1743C>T (p.Arg581=) rs144513373 0.00339
NM_024757.5(EHMT1):c.480C>T (p.Gly160=) rs150135875 0.00193
NM_024757.5(EHMT1):c.3016G>A (p.Val1006Met) rs33999936 0.00183
NM_024757.5(EHMT1):c.148G>A (p.Ala50Thr) rs78104547 0.00146
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.932C>T (p.Thr311Met) rs142727972 0.00036
NM_024757.5(EHMT1):c.1865A>G (p.Asn622Ser) rs184814386 0.00034
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.2705G>A (p.Arg902Gln) rs377070695 0.00026
NM_024757.5(EHMT1):c.311C>T (p.Ala104Val) rs142199482 0.00026
NM_024757.5(EHMT1):c.3198C>T (p.Asp1066=) rs367688971 0.00022
NM_024757.5(EHMT1):c.32C>T (p.Ala11Val) rs200636818 0.00022
NM_024757.5(EHMT1):c.905A>G (p.Lys302Arg) rs565065320 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.1947G>A (p.Ser649=) rs139206060 0.00017
NM_024757.5(EHMT1):c.1135A>G (p.Lys379Glu) rs146711478 0.00014
NM_024757.5(EHMT1):c.1140G>C (p.Glu380Asp) rs368995503 0.00013
NM_024757.5(EHMT1):c.2039C>T (p.Ser680Leu) rs147523309 0.00013
NM_024757.5(EHMT1):c.3028G>A (p.Val1010Met) rs200237137 0.00013
NM_024757.5(EHMT1):c.298G>A (p.Asp100Asn) rs540121859 0.00011
NM_024757.5(EHMT1):c.1081G>A (p.Gly361Ser) rs143891279 0.00010
NM_024757.5(EHMT1):c.150G>A (p.Ala50=) rs371344592 0.00009
NM_024757.5(EHMT1):c.3848A>C (p.Glu1283Ala) rs398124408 0.00009
NM_024757.5(EHMT1):c.70G>A (p.Glu24Lys) rs373269573 0.00009
NM_024757.5(EHMT1):c.1148C>T (p.Ser383Leu) rs771654748 0.00007
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.1433G>A (p.Gly478Glu) rs376787713 0.00006
NM_024757.5(EHMT1):c.149C>T (p.Ala50Val) rs143155406 0.00006
NM_024757.5(EHMT1):c.188C>T (p.Ala63Val) rs138292762 0.00006
NM_024757.5(EHMT1):c.2442C>T (p.Ala814=) rs772286870 0.00006
NM_024757.5(EHMT1):c.3375G>C (p.Arg1125Ser) rs764006601 0.00006
NM_024757.5(EHMT1):c.2927T>G (p.Leu976Arg) rs147956904 0.00004
NM_024757.5(EHMT1):c.3401G>A (p.Arg1134Gln) rs373174786 0.00004
NM_024757.5(EHMT1):c.529G>C (p.Ala177Pro) rs182595609 0.00004
NM_024757.5(EHMT1):c.589G>A (p.Asp197Asn) rs774174988 0.00004
NM_024757.5(EHMT1):c.3322G>A (p.Ala1108Thr) rs199780189 0.00003
NM_024757.5(EHMT1):c.369C>T (p.Asn123=) rs770086341 0.00003
NM_024757.5(EHMT1):c.86-5G>A rs371370370 0.00003
NM_024757.5(EHMT1):c.1107G>A (p.Ala369=) rs540617218 0.00002
NM_024757.5(EHMT1):c.1160G>A (p.Arg387His) rs776502547 0.00002
NM_024757.5(EHMT1):c.1319C>T (p.Pro440Leu) rs146814571 0.00002
NM_024757.5(EHMT1):c.183C>T (p.Ser61=) rs774448433 0.00002
NM_024757.5(EHMT1):c.463C>G (p.Leu155Val) rs1003872402 0.00002
NM_024757.5(EHMT1):c.713A>G (p.Asn238Ser) rs1004363452 0.00002
NM_024757.5(EHMT1):c.1181A>C (p.Glu394Ala) rs773281152 0.00001
NM_024757.5(EHMT1):c.1814C>T (p.Pro605Leu) rs373640528 0.00001
NM_024757.5(EHMT1):c.2026G>A (p.Gly676Arg) rs757416132 0.00001
NM_024757.5(EHMT1):c.23C>T (p.Ala8Val) rs375391530 0.00001
NM_024757.5(EHMT1):c.2755G>A (p.Val919Met) rs749976725 0.00001
NM_024757.5(EHMT1):c.3687C>T (p.Thr1229=) rs201655114 0.00001
NM_024757.5(EHMT1):c.376A>G (p.Ile126Val) rs773781896 0.00001
NM_024757.5(EHMT1):c.510G>T (p.Gln170His) rs1308431693 0.00001
NM_024757.5(EHMT1):c.575C>T (p.Pro192Leu) rs35285441 0.00001
NM_024757.5(EHMT1):c.592G>A (p.Val198Ile) rs761554206 0.00001
NM_024757.5(EHMT1):c.110G>A (p.Gly37Asp) rs1300327079
NM_024757.5(EHMT1):c.1468C>T (p.Arg490Ter) rs1588553447
NM_024757.5(EHMT1):c.2110C>T (p.Leu704Phe) rs866512456
NM_024757.5(EHMT1):c.216C>A (p.His72Gln) rs374930132
NM_024757.5(EHMT1):c.2426C>T (p.Pro809Leu) rs587780332
NM_024757.5(EHMT1):c.2803G>A (p.Val935Met) rs762121901
NM_024757.5(EHMT1):c.2839G>A (p.Ala947Thr) rs797045555
NM_024757.5(EHMT1):c.3011G>A (p.Ser1004Asn) rs138283222
NM_024757.5(EHMT1):c.3180+10G>T rs113676865
NM_024757.5(EHMT1):c.324C>G (p.His108Gln) rs574402576
NM_024757.5(EHMT1):c.3459C>T (p.Cys1153=) rs2132793967
NM_024757.5(EHMT1):c.3502C>T (p.Arg1168Ter) rs121918301
NM_024757.5(EHMT1):c.3555C>T (p.Tyr1185=) rs398124407
NM_024757.5(EHMT1):c.35G>C (p.Arg12Thr) rs777999570
NM_024757.5(EHMT1):c.3853G>C (p.Gly1285Arg)
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.642+22C>G rs138785890
NM_024757.5(EHMT1):c.673C>T (p.Arg225Ter) rs879255531
NM_024757.5(EHMT1):c.736C>T (p.Arg246Ter) rs1474604202
NM_024757.5(EHMT1):c.82G>C (p.Glu28Gln) rs1342402816
NM_024757.5(EHMT1):c.91C>T (p.Pro31Ser) rs759512176

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