ClinVar Miner

List of variants in gene GPHN studied for amino acid or protein metabolism disease with epilepsy

Included ClinVar conditions (24):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 81
Download table as spreadsheet
HGVS dbSNP
NC_000014.8:g.(?_67243157)_(67647704_?)del
NC_000014.8:g.(?_67243162)_(67391029_?)del
NC_000014.8:g.(?_67243182)_(67432042_?)del
NC_000014.8:g.(?_67346637)_(67391029_?)dup
NC_000014.8:g.(?_67610059)_(67610186_?)dup
NC_000014.9:g.(?_65957717)_(66508591_?)dup
NC_000014.9:g.(?_66508508)_(66508611_?)del
NC_000014.9:g.(?_66508508)_(66681205_?)del
NC_000014.9:g.(?_66776444)_(66776541_?)del
NC_000014.9:g.(?_66776464)_(66776521_?)del
NC_000014.9:g.(?_66824474)_(66824566_?)del
NC_000014.9:g.(?_66879919)_(66880053_?)del
NC_000014.9:g.(?_66915983)_(66916089_?)dup
NC_000014.9:g.(?_66965171)_(67100931_?)dup
NC_000014.9:g.(?_67058629)_(67180957_?)dup
NC_000014.9:g.(?_67122236)_(67122397_?)del
NM_020806.4(GPHN):c.1004C>A (p.Ala335Asp) rs1555466432
NM_020806.4(GPHN):c.1033G>A (p.Val345Met)
NM_020806.4(GPHN):c.1173T>C (p.Asp391=) rs147709250
NM_020806.4(GPHN):c.1191T>C (p.Asn397=)
NM_020806.4(GPHN):c.1238C>T (p.Ala413Val) rs1555490611
NM_020806.4(GPHN):c.1243G>T (p.Asp415Tyr) rs1567331787
NM_020806.4(GPHN):c.127G>A (p.Val43Ile) rs117256383
NM_020806.4(GPHN):c.127G>T (p.Val43Leu) rs117256383
NM_020806.4(GPHN):c.1333A>C (p.Thr445Pro)
NM_020806.4(GPHN):c.1414-10G>C
NM_020806.4(GPHN):c.1414-4A>C rs111956954
NM_020806.4(GPHN):c.144-10C>T rs199759192
NM_020806.4(GPHN):c.144G>T (p.Leu48Phe) rs1381377609
NM_020806.4(GPHN):c.1558A>T (p.Thr520Ser) rs749747472
NM_020806.4(GPHN):c.165A>G (p.Ala55=) rs753182110
NM_020806.4(GPHN):c.1666C>T (p.Arg556Ter)
NM_020806.4(GPHN):c.1678C>T (p.Arg560Cys) rs1567363565
NM_020806.4(GPHN):c.1734T>C (p.Gly578=) rs77465022
NM_020806.4(GPHN):c.1766A>G (p.Asn589Ser)
NM_020806.4(GPHN):c.1797T>C (p.Asp599=) rs41285476
NM_020806.4(GPHN):c.1831G>A (p.Glu611Lys) rs1060499577
NM_020806.4(GPHN):c.1838A>C (p.Asp613Ala) rs397518420
NM_020806.4(GPHN):c.1911-3T>C
NM_020806.4(GPHN):c.1911-6T>C rs369800026
NM_020806.4(GPHN):c.1911-7C>T
NM_020806.4(GPHN):c.1944T>C (p.Asp648=)
NM_020806.4(GPHN):c.1946G>T (p.Gly649Val) rs1555506781
NM_020806.4(GPHN):c.1971A>C (p.Leu657=) rs150799851
NM_020806.4(GPHN):c.2124G>A (p.Arg708=) rs761412853
NM_020806.4(GPHN):c.2176+9T>C rs74939746
NM_020806.4(GPHN):c.2192G>C (p.Ser731Thr) rs142608987
NM_020806.4(GPHN):c.2226G>T (p.Leu742Phe) rs1567459862
NM_020806.4(GPHN):c.26C>G (p.Thr9Ser) rs150226537
NM_020806.4(GPHN):c.271G>A (p.Ala91Thr) rs140021399
NM_020806.4(GPHN):c.28A>T (p.Asn10Tyr) rs121908539
NM_020806.4(GPHN):c.307G>A (p.Val103Ile) rs774132595
NM_020806.4(GPHN):c.327A>G (p.Pro109=) rs1555430196
NM_020806.4(GPHN):c.369A>G (p.Thr123=)
NM_020806.4(GPHN):c.381G>A (p.Met127Ile) rs1057338763
NM_020806.4(GPHN):c.390-3C>T
NM_020806.4(GPHN):c.543T>G (p.Asp181Glu) rs990423200
NM_020806.4(GPHN):c.592A>C (p.Thr198Pro) rs776521403
NM_020806.4(GPHN):c.633A>G (p.Gln211=) rs151322023
NM_020806.4(GPHN):c.64+8G>C
NM_020806.4(GPHN):c.65-?_201+?del
NM_020806.4(GPHN):c.651A>G (p.Glu217=)
NM_020806.4(GPHN):c.716C>G (p.Ala239Gly) rs746967730
NM_020806.4(GPHN):c.800A>G (p.Asn267Ser) rs41285470
NM_020806.4(GPHN):c.826C>T (p.Arg276Trp) rs777009433
NM_020806.4(GPHN):c.86A>G (p.Asn29Ser) rs144247888
NM_020806.4(GPHN):c.963+10G>A rs41310850
NM_020806.5(GPHN):c.100C>T (p.Arg34Cys)
NM_020806.5(GPHN):c.1092C>G (p.Ile364Met)
NM_020806.5(GPHN):c.1238-3C>T
NM_020806.5(GPHN):c.172A>T (p.Ile58Leu)
NM_020806.5(GPHN):c.1744G>A (p.Asp582Asn)
NM_020806.5(GPHN):c.1989G>A (p.Ser663=)
NM_020806.5(GPHN):c.2079+2T>C
NM_020806.5(GPHN):c.278G>A (p.Arg93Gln)
NM_020806.5(GPHN):c.325C>A (p.Pro109Thr)
NM_020806.5(GPHN):c.64+6C>G
NM_020806.5(GPHN):c.670G>A (p.Val224Ile)
NM_020806.5(GPHN):c.685G>A (p.Asp229Asn)
NM_020806.5(GPHN):c.931C>T (p.Arg311Cys)
NM_020806.5(GPHN):c.941C>T (p.Thr314Ile)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.