ClinVar Miner

List of variants reported as pathogenic for Sulfite oxidase deficiency due to molybdenum cofactor deficiency type C by Invitae

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Total variants: 41
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HGVS dbSNP gnomAD frequency
NC_000014.8:g.(?_67147805)_(67243259_?)del
NC_000014.8:g.(?_67147805)_(67291304_?)del
NC_000014.8:g.(?_67147805)_(67391029_?)del
NC_000014.8:g.(?_67243162)_(67391029_?)del
NC_000014.8:g.(?_67243162)_(67490412_?)del
NC_000014.8:g.(?_67243172)_(67291294_?)del
NC_000014.8:g.(?_67243182)_(67432042_?)del
NC_000014.8:g.(?_67291172)_(67490412_?)del
NC_000014.8:g.(?_67346637)_(67432062_?)del
NC_000014.8:g.(?_67382700)_(67432062_?)del
NC_000014.8:g.(?_67490330)_(67555812_?)del
NC_000014.8:g.(?_67525346)_(67567648_?)del
NC_000014.8:g.(?_67567553)_(67589114_?)del
NC_000014.8:g.(?_67631859)_(67635773_?)del
NC_000014.8:g.(?_67635630)_(67635773_?)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_020806.5(GPHN):c.1156C>T (p.Arg386Ter)
NM_020806.5(GPHN):c.1156_1159dup (p.Val387fs) rs2153668269
NM_020806.5(GPHN):c.1206del (p.Ala403fs)
NM_020806.5(GPHN):c.1223G>A (p.Gly408Asp)
NM_020806.5(GPHN):c.1234C>T (p.Arg412Ter) rs2153668310
NM_020806.5(GPHN):c.1275dup (p.Ser426fs)
NM_020806.5(GPHN):c.1560del (p.Thr520_Val521insTer)
NM_020806.5(GPHN):c.1666C>T (p.Arg556Ter) rs1595241291
NM_020806.5(GPHN):c.168C>A (p.Tyr56Ter)
NM_020806.5(GPHN):c.1702C>T (p.Gln568Ter)
NM_020806.5(GPHN):c.1834A>T (p.Lys612Ter)
NM_020806.5(GPHN):c.1907dup (p.Gly637fs) rs2153717733
NM_020806.5(GPHN):c.277C>T (p.Arg93Ter) rs2061323841
NM_020806.5(GPHN):c.400G>A (p.Gly134Arg)
NM_020806.5(GPHN):c.577_578del (p.Leu193fs) rs2153561495
NM_020806.5(GPHN):c.630dup (p.Gln211fs)
NM_020806.5(GPHN):c.704_705del (p.Ile235fs)
NM_020806.5(GPHN):c.747del (p.Ser250fs)
NM_020806.5(GPHN):c.770_771del (p.His257fs)
NM_020806.5(GPHN):c.802_803insG (p.Tyr268Ter)
NM_020806.5(GPHN):c.904G>T (p.Glu302Ter)

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