List of variants in gene JMJD1C reported as benign for Early myoclonic encephalopathy

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: 60

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HGVS	dbSNP	gnomAD frequency
NM_032776.3(JMJD1C):c.3984T>A (p.Arg1328=)	rs1904294	0.98372
NM_032776.3(JMJD1C):c.168+10T>C	rs10761770	0.96023
NM_032776.3(JMJD1C):c.6789C>T (p.Asp2263=)	rs3211105	0.66170
NM_032776.3(JMJD1C):c.168+11C>G	rs1061259	0.65532
NM_032776.3(JMJD1C):c.1390T>A (p.Ser464Thr)	rs10761725	0.62834
NM_032776.3(JMJD1C):c.7605G>C (p.Glu2535Asp)	rs1935	0.42516
NM_032776.3(JMJD1C):c.1771A>G (p.Met591Val)	rs41274072	0.05413
NM_032776.3(JMJD1C):c.1547C>G (p.Thr516Ser)	rs41274074	0.03270
NM_032776.3(JMJD1C):c.447+7A>C	rs73290502	0.02681
NM_032776.3(JMJD1C):c.759T>C (p.Gly253=)	rs34037273	0.02313
NM_032776.3(JMJD1C):c.7200C>G (p.Asp2400Glu)	rs34491125	0.02306
NM_032776.3(JMJD1C):c.3984= (p.Arg1328=)	rs1904294	0.01628
NM_032776.3(JMJD1C):c.814G>A (p.Ala272Thr)	rs34798625	0.01383
NM_032776.3(JMJD1C):c.6570+3G>A	rs76935733	0.00908
NM_032776.3(JMJD1C):c.1379T>C (p.Met460Thr)	rs151186255	0.00854
NM_032776.3(JMJD1C):c.699C>T (p.Val233=)	rs74138760	0.00482
NM_032776.3(JMJD1C):c.5940G>A (p.Pro1980=)	rs34825545	0.00431
NM_032776.3(JMJD1C):c.2628T>C (p.Leu876=)	rs139078977	0.00356
NM_032776.3(JMJD1C):c.7401+13T>C	rs142145484	0.00353
NM_032776.3(JMJD1C):c.1392G>A (p.Ser464=)	rs142118527	0.00326
NM_032776.3(JMJD1C):c.6948G>A (p.Leu2316=)	rs79059103	0.00279
NM_032776.3(JMJD1C):c.1682C>G (p.Ser561Cys)	rs149889210	0.00274
NM_032776.3(JMJD1C):c.3717T>C (p.Asn1239=)	rs751482085	0.00088
NM_032776.3(JMJD1C):c.6571-15T>C	rs375459573	0.00081
NM_032776.3(JMJD1C):c.1910A>G (p.Lys637Arg)	rs117647164	0.00080
NM_032776.3(JMJD1C):c.3951T>C (p.Ser1317=)	rs143894691	0.00053
NM_032776.3(JMJD1C):c.7593G>A (p.Glu2531=)	rs186321056	0.00042
NM_032776.3(JMJD1C):c.3178A>G (p.Lys1060Glu)	rs149833441	0.00039
NM_032776.3(JMJD1C):c.3807A>G (p.Glu1269=)	rs527526754	0.00036
NM_032776.3(JMJD1C):c.6834C>T (p.Tyr2278=)	rs140575344	0.00030
NM_032776.3(JMJD1C):c.18G>A (p.Arg6=)	rs200305143	0.00026
NM_032776.3(JMJD1C):c.3288A>G (p.Thr1096=)	rs553346839	0.00024
NM_032776.3(JMJD1C):c.4410T>C (p.Ser1470=)	rs118024996	0.00011
NM_032776.3(JMJD1C):c.6624G>A (p.Ala2208=)	rs376902848	0.00011
NM_032776.3(JMJD1C):c.5271T>C (p.Phe1757=)	rs544719834	0.00010
NM_032776.3(JMJD1C):c.4359A>G (p.Thr1453=)	rs548304608	0.00006
NM_032776.3(JMJD1C):c.5276+15G>T	rs375419932	0.00006
NM_032776.3(JMJD1C):c.6027G>T (p.Leu2009=)	rs567705184	0.00003
NM_032776.3(JMJD1C):c.2514G>A (p.Gln838=)	rs373568855	0.00002
NM_032776.3(JMJD1C):c.3588A>T (p.Thr1196=)	rs568159160	0.00002
NM_032776.3(JMJD1C):c.4137T>C (p.Ser1379=)	rs553383426	0.00002
NM_032776.3(JMJD1C):c.2349T>G (p.Thr783=)	rs755118052	0.00001
NM_032776.3(JMJD1C):c.1329_1331del (p.His443_Glu444delinsGln)	rs141981100
NM_032776.3(JMJD1C):c.168+10_168+11delinsCG	rs34353506
NM_032776.3(JMJD1C):c.1949C>T (p.Thr650Ile)	rs41274068
NM_032776.3(JMJD1C):c.2695-19dup
NM_032776.3(JMJD1C):c.2695-20TTGTT[4]	rs60227922
NM_032776.3(JMJD1C):c.334-9del	rs770502308
NM_032776.3(JMJD1C):c.3473_3478del (p.Gly1158_Leu1159del)	rs139722368
NM_032776.3(JMJD1C):c.4188G>A (p.Thr1396=)
NM_032776.3(JMJD1C):c.5075-5del	rs779803861
NM_032776.3(JMJD1C):c.5492-12dup
NM_032776.3(JMJD1C):c.554-11dup	rs758235168
NM_032776.3(JMJD1C):c.554-4del
NM_032776.3(JMJD1C):c.5939C>T (p.Pro1980Leu)	rs41274064
NM_032776.3(JMJD1C):c.6292-10del	rs544671297
NM_032776.3(JMJD1C):c.6292-3T>C	rs562569205
NM_032776.3(JMJD1C):c.678+17A>T
NM_032776.3(JMJD1C):c.7402-14dup
NM_032776.3(JMJD1C):c.982_984del (p.Lys328del)	rs750958010

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