ClinVar Miner

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

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Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_020806.5(GPHN):c.828+1G>A rs533003321 0.00005
NC_000014.8:g.(?_67243157)_(67647704_?)del
NC_000014.8:g.(?_67243162)_(67490412_?)dup
NC_000014.8:g.(?_67431888)_(67525523_?)dup
NC_000014.8:g.(?_67567553)_(67589114_?)dup
NC_000014.8:g.(?_67610059)_(67610186_?)dup
NC_000014.9:g.(?_66776464)_(66776521_?)del
NC_000014.9:g.(?_66824474)_(66824566_?)del
NC_000014.9:g.(?_66915983)_(66916089_?)dup
NM_020806.5(GPHN):c.1006+2T>C
NM_020806.5(GPHN):c.1237+2T>C
NM_020806.5(GPHN):c.1413+2T>G rs2153685300
NM_020806.5(GPHN):c.144-1G>C
NM_020806.5(GPHN):c.1472+1G>A
NM_020806.5(GPHN):c.1473-1G>A
NM_020806.5(GPHN):c.1473-7_1489del
NM_020806.5(GPHN):c.1975+2T>C rs2140003018
NM_020806.5(GPHN):c.2079+2T>C rs2082439915
NM_020806.5(GPHN):c.294+1G>T
NM_020806.5(GPHN):c.389+1G>A
NM_020806.5(GPHN):c.589_729+150del
NM_020806.5(GPHN):c.65-1G>C rs2066910297
NM_020806.5(GPHN):c.730-1G>A rs1567108397

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