ClinVar Miner

List of variants in gene GPHN reported as pathogenic 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: 10
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HGVS dbSNP
NC_000014.8:g.(?_67243162)_(67391029_?)del
NC_000014.8:g.(?_67243182)_(67432042_?)del
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.(?_66879919)_(66880053_?)del
NC_000014.9:g.(?_67122236)_(67122397_?)del
NM_020806.4(GPHN):c.1666C>T (p.Arg556Ter) rs1595241291
NM_020806.4(GPHN):c.1838A>C (p.Asp613Ala) rs397518420
NM_020806.4(GPHN):c.65-?_201+?del

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