ClinVar Miner

List of variants in gene DOK7 reported by OMIM

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Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_173660.5(DOK7):c.331+1G>T rs1349476281 0.00001
NM_173660.5(DOK7):c.1124_1127dup (p.Ala378fs) rs606231128
NM_173660.5(DOK7):c.1143dup (p.Glu382fs) rs606231132
NM_173660.5(DOK7):c.1263dup (p.Ser422fs) rs606231129
NM_173660.5(DOK7):c.1339_1342dup (p.Gly448fs) rs606231131
NM_173660.5(DOK7):c.1378dup (p.Gln460fs) rs606231133
NM_173660.5(DOK7):c.55-1G>T rs863223277
NM_173660.5(DOK7):c.601C>T (p.Arg201Ter) rs118203995
NM_173660.5(DOK7):c.957del (p.Lys320fs) rs794727884

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