ClinVar Miner

List of variants in gene combination DOK7, LOC129992118 reported as likely benign for neuromuscular junction disease

Included ClinVar conditions (56):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_173660.5(DOK7):c.772+14C>G rs201023802 0.00016
NM_173660.5(DOK7):c.772+8C>T rs199769286 0.00008
NM_173660.5(DOK7):c.772+20T>C rs376466543 0.00004
NM_173660.5(DOK7):c.759G>A (p.Arg253=) rs759824901 0.00001
NM_173660.5(DOK7):c.762G>A (p.Pro254=) rs763623892 0.00001
NM_173660.5(DOK7):c.772+9G>A rs778823411 0.00001
NM_173660.5(DOK7):c.690T>G (p.Arg230=) rs1577172106
NM_173660.5(DOK7):c.696C>T (p.Ala232=)
NM_173660.5(DOK7):c.699G>A (p.Gln233=)
NM_173660.5(DOK7):c.702A>G (p.Glu234=)
NM_173660.5(DOK7):c.708G>A (p.Leu236=)
NM_173660.5(DOK7):c.714C>A (p.Thr238=)
NM_173660.5(DOK7):c.714C>T (p.Thr238=)
NM_173660.5(DOK7):c.717A>G (p.Leu239=)
NM_173660.5(DOK7):c.720G>A (p.Gln240=)
NM_173660.5(DOK7):c.752C>A (p.Ala251Glu) rs376251309
NM_173660.5(DOK7):c.753G>C (p.Ala251=) rs59932476
NM_173660.5(DOK7):c.753G>T (p.Ala251=)
NM_173660.5(DOK7):c.757A>C (p.Arg253=)
NM_173660.5(DOK7):c.762G>C (p.Pro254=)
NM_173660.5(DOK7):c.768T>C (p.Ser256=)
NM_173660.5(DOK7):c.772+13G>A
NM_173660.5(DOK7):c.772+14C>T rs201023802
NM_173660.5(DOK7):c.772+14del
NM_173660.5(DOK7):c.772+8C>G

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