ClinVar Miner

List of variants in gene combination GPHN, LOC126861970 reported as uncertain significance for Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C

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Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_020806.5(GPHN):c.1987T>C (p.Ser663Pro) rs762085852 0.00003
NM_020806.5(GPHN):c.1976-3C>T rs374685366 0.00001
NM_020806.5(GPHN):c.1977G>T (p.Gly659=) rs777015801 0.00001
NM_020806.5(GPHN):c.1984G>T (p.Val662Leu)
NM_020806.5(GPHN):c.1996G>T (p.Val666Phe)
NM_020806.5(GPHN):c.2054C>G (p.Pro685Arg)
NM_020806.5(GPHN):c.2056C>T (p.Arg686Trp)
NM_020806.5(GPHN):c.2057G>A (p.Arg686Gln)

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