ClinVar Miner

List of variants reported as benign for Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C

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Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_020806.5(GPHN):c.65-9T>C rs3759753 0.33000
NM_020806.5(GPHN):c.202-6T>C rs3784075 0.23447
NM_020806.5(GPHN):c.1734T>C (p.Gly578=) rs77465022 0.01208
NM_020806.5(GPHN):c.963+10G>A rs41310850 0.01014
NM_020806.5(GPHN):c.1627-20G>T rs113201928 0.00379
NM_020806.5(GPHN):c.1414-4A>C rs111956954 0.00338
NM_020806.5(GPHN):c.1414-15C>T rs183159303 0.00204
NM_020806.5(GPHN):c.26C>G (p.Thr9Ser) rs150226537 0.00100
NM_020806.5(GPHN):c.2176+9T>C rs74939746 0.00031
NM_020806.5(GPHN):c.64+8G>C rs201245603 0.00011
NM_020806.5(GPHN):c.127G>T (p.Val43Leu) rs117256383
NM_020806.5(GPHN):c.1293+16del rs780721725
NM_020806.5(GPHN):c.1797T>C (p.Asp599=) rs41285476
NM_020806.5(GPHN):c.1911-9_1911-8dup rs757111014
NM_020806.5(GPHN):c.2080-14A>G rs56264248
NM_020806.5(GPHN):c.2080-14A>T rs56264248

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