ClinVar Miner

List of variants in gene DOK7, LOC126806951 studied for fetal akinesia deformation sequence

Included ClinVar conditions (14):
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Gene type:
ClinVar version:
Total variants: 35
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HGVS dbSNP gnomAD frequency
NM_173660.5(DOK7):c.533-29A>G rs2006791 0.73240
NM_173660.5(DOK7):c.577A>G (p.Ser193Gly) rs139133047 0.00038
NM_173660.5(DOK7):c.567G>A (p.Gly189=) rs141808910 0.00030
NM_173660.5(DOK7):c.561C>T (p.Ala187=) rs140026458 0.00009
NM_173660.5(DOK7):c.541G>A (p.Val181Ile) rs146076204 0.00004
NM_173660.5(DOK7):c.564G>A (p.Glu188=) rs375631042 0.00003
NM_173660.5(DOK7):c.557C>T (p.Ser186Leu) rs772577244 0.00002
NM_173660.5(DOK7):c.562G>A (p.Glu188Lys) rs1388813398 0.00001
NM_173660.5(DOK7):c.578G>A (p.Ser193Asn) rs760505816 0.00001
NM_173660.5(DOK7):c.579C>T (p.Ser193=) rs766358840 0.00001
NM_173660.5(DOK7):c.533-159_641del rs2109369117
NM_173660.5(DOK7):c.533-15G>C
NM_173660.5(DOK7):c.533-16T>C
NM_173660.5(DOK7):c.533-19C>T
NM_173660.5(DOK7):c.533-4G>A
NM_173660.5(DOK7):c.533-6C>T rs1727716278
NM_173660.5(DOK7):c.533-8C>G
NM_173660.5(DOK7):c.533-9C>T
NM_173660.5(DOK7):c.534G>T (p.Trp178Cys) rs1727716645
NM_173660.5(DOK7):c.535G>C (p.Ala179Pro) rs756146556
NM_173660.5(DOK7):c.536_540del (p.Ala179fs)
NM_173660.5(DOK7):c.540C>T (p.Gly180=)
NM_173660.5(DOK7):c.546C>T (p.Phe182=) rs575721820
NM_173660.5(DOK7):c.548_551del (p.Phe183fs) rs606231130
NM_173660.5(DOK7):c.549C>T (p.Phe183=) rs1448680067
NM_173660.5(DOK7):c.550C>T (p.Leu184=)
NM_173660.5(DOK7):c.550del (p.Leu184fs)
NM_173660.5(DOK7):c.551T>C (p.Leu184Pro) rs1727718542
NM_173660.5(DOK7):c.558G>A (p.Ser186=)
NM_173660.5(DOK7):c.558G>T (p.Ser186=)
NM_173660.5(DOK7):c.559G>C (p.Ala187Pro) rs1220205278
NM_173660.5(DOK7):c.564G>C (p.Glu188Asp) rs375631042
NM_173660.5(DOK7):c.565G>T (p.Gly189Trp) rs1727720417
NM_173660.5(DOK7):c.570G>A (p.Glu190=) rs962876610
NM_173660.5(DOK7):c.576C>T (p.Ile192=)

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