ClinVar Miner

List of variants in gene GPHN reported as likely benign 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: 17
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HGVS dbSNP
NM_020806.4(GPHN):c.1173T>C (p.Asp391=) rs147709250
NM_020806.4(GPHN):c.1191T>C (p.Asn397=) rs535587671
NM_020806.4(GPHN):c.1414-10G>C rs1595186662
NM_020806.4(GPHN):c.144-10C>T rs199759192
NM_020806.4(GPHN):c.165A>G (p.Ala55=) rs753182110
NM_020806.4(GPHN):c.1911-6T>C rs369800026
NM_020806.4(GPHN):c.1911-7C>T rs201555766
NM_020806.4(GPHN):c.1944T>C (p.Asp648=) rs761997982
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.2192G>C (p.Ser731Thr) rs142608987
NM_020806.4(GPHN):c.26C>G (p.Thr9Ser) rs150226537
NM_020806.4(GPHN):c.327A>G (p.Pro109=) rs1555430196
NM_020806.4(GPHN):c.369A>G (p.Thr123=) rs767272331
NM_020806.4(GPHN):c.633A>G (p.Gln211=) rs151322023
NM_020806.4(GPHN):c.651A>G (p.Glu217=) rs1009464001
NM_020806.4(GPHN):c.800A>G (p.Asn267Ser) rs41285470

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