ClinVar Miner

List of variants in gene DOK7 reported as likely benign by CeGaT Center for Human Genetics Tuebingen

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Gene type:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_173660.5(DOK7):c.134C>T (p.Ser45Leu) rs62272670 0.00470
NM_173660.5(DOK7):c.1278C>T (p.Pro426=) rs139468087 0.00181
NM_173660.5(DOK7):c.1507C>A (p.Pro503Thr) rs184556570 0.00117
NM_173660.5(DOK7):c.1320C>T (p.Ala440=) rs368868378 0.00019
NM_173660.5(DOK7):c.480C>T (p.Tyr160=) rs550024569 0.00009
NM_173660.5(DOK7):c.1191G>C (p.Val397=) rs781489489 0.00001
NM_001301071.2(DOK7):c.1587G>T (p.Pro529=)

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