ClinVar Miner

List of variants in gene DOCK7 reported as likely pathogenic for complex neurodevelopmental disorder

Included ClinVar conditions (295):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_001367561.1(DOCK7):c.4380-1G>T rs774949595 0.00002
NM_001367561.1(DOCK7):c.4637dup (p.Thr1547fs) rs770283117 0.00001
NM_001367561.1(DOCK7):c.5101C>T (p.Arg1701Ter) rs1419019482 0.00001
NM_001367561.1(DOCK7):c.819-1G>A rs763358033 0.00001
NM_001367561.1(DOCK7):c.1005_1011del (p.Pro336fs)
NM_001367561.1(DOCK7):c.1285C>T (p.Arg429Ter) rs1057520100
NM_001367561.1(DOCK7):c.1333C>T (p.Arg445Ter) rs758111714
NM_001367561.1(DOCK7):c.1519+1G>A
NM_001367561.1(DOCK7):c.2200-2A>G
NM_001367561.1(DOCK7):c.2431+1G>A
NM_001367561.1(DOCK7):c.2432-2A>C rs760580647
NM_001367561.1(DOCK7):c.2596+1G>C
NM_001367561.1(DOCK7):c.2767-1G>A rs1645656856
NM_001367561.1(DOCK7):c.2949+2T>C
NM_001367561.1(DOCK7):c.2977T>C (p.Trp993Arg) rs1645575152
NM_001367561.1(DOCK7):c.3187-31_3274del rs2149393215
NM_001367561.1(DOCK7):c.4924-1G>A rs2149301822
NM_001367561.1(DOCK7):c.5463dup (p.Gln1822fs) rs1571266478
NM_001367561.1(DOCK7):c.5493+1G>T
NM_001367561.1(DOCK7):c.5724+1G>A rs2149260122
NM_001367561.1(DOCK7):c.5724+1G>T
NM_001367561.1(DOCK7):c.5725-2A>G

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