ClinVar Miner

List of variants in gene GPHN reported as 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: 8
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HGVS dbSNP
NM_020806.4(GPHN):c.127G>T (p.Val43Leu) rs117256383
NM_020806.4(GPHN):c.1414-4A>C rs111956954
NM_020806.4(GPHN):c.1734T>C (p.Gly578=) rs77465022
NM_020806.4(GPHN):c.1797T>C (p.Asp599=) rs41285476
NM_020806.4(GPHN):c.2176+9T>C rs74939746
NM_020806.4(GPHN):c.26C>G (p.Thr9Ser) rs150226537
NM_020806.4(GPHN):c.64+8G>C
NM_020806.4(GPHN):c.963+10G>A rs41310850

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