ClinVar Miner

List of variants in gene DOK7, LOC129992118 studied for fetal akinesia deformation sequence

Included ClinVar conditions (14):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 57
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HGVS dbSNP gnomAD frequency
NM_173660.5(DOK7):c.753G>A (p.Ala251=) rs59932476 0.04559
NM_173660.5(DOK7):c.765C>A (p.Gly255=) rs138215484 0.00016
NM_173660.5(DOK7):c.772+14C>G rs201023802 0.00016
NM_173660.5(DOK7):c.752C>T (p.Ala251Val) rs376251309 0.00013
NM_173660.5(DOK7):c.688C>T (p.Arg230Cys) rs202077864 0.00008
NM_173660.5(DOK7):c.772+8C>T rs199769286 0.00008
NM_173660.5(DOK7):c.730C>T (p.Arg244Trp) rs140544446 0.00004
NM_173660.5(DOK7):c.772+20T>C rs376466543 0.00004
NM_173660.5(DOK7):c.757A>G (p.Arg253Gly) rs370967580 0.00003
NM_173660.5(DOK7):c.689G>A (p.Arg230His) rs760941977 0.00002
NM_173660.5(DOK7):c.691G>A (p.Val231Met) rs369297851 0.00001
NM_173660.5(DOK7):c.716T>G (p.Leu239Arg) rs1023898774 0.00001
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.766A>G (p.Ser256Gly) rs750004938 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.707T>G (p.Leu236Arg) rs2109388893
NM_173660.5(DOK7):c.708G>A (p.Leu236=)
NM_173660.5(DOK7):c.713C>T (p.Thr238Ile)
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.718C>T (p.Gln240Ter)
NM_173660.5(DOK7):c.720G>A (p.Gln240=)
NM_173660.5(DOK7):c.724G>C (p.Glu242Gln)
NM_173660.5(DOK7):c.725A>C (p.Glu242Ala)
NM_173660.5(DOK7):c.727A>G (p.Lys243Glu)
NM_173660.5(DOK7):c.731G>A (p.Arg244Gln)
NM_173660.5(DOK7):c.737G>C (p.Ser246Thr) rs2109389067
NM_173660.5(DOK7):c.743_746dup (p.His250fs) rs1560224831
NM_173660.5(DOK7):c.746C>G (p.Ser249Ter)
NM_173660.5(DOK7):c.751G>A (p.Ala251Thr)
NM_173660.5(DOK7):c.752C>A (p.Ala251Glu) rs376251309
NM_173660.5(DOK7):c.752C>G (p.Ala251Gly)
NM_173660.5(DOK7):c.752_753delinsTA (p.Ala251Val) rs1577172369
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.757_772+3del
NM_173660.5(DOK7):c.759_767del (p.Arg253_Gly255del) rs373384998
NM_173660.5(DOK7):c.761C>G (p.Pro254Arg) rs200407250
NM_173660.5(DOK7):c.761C>T (p.Pro254Leu) rs200407250
NM_173660.5(DOK7):c.762G>C (p.Pro254=)
NM_173660.5(DOK7):c.765C>T (p.Gly255=)
NM_173660.5(DOK7):c.765_772+11del
NM_173660.5(DOK7):c.768T>C (p.Ser256=)
NM_173660.5(DOK7):c.772+13G>A
NM_173660.5(DOK7):c.772+13dup
NM_173660.5(DOK7):c.772+14C>T rs201023802
NM_173660.5(DOK7):c.772+14del
NM_173660.5(DOK7):c.772+4G>A
NM_173660.5(DOK7):c.772+6G>C rs2109389412
NM_173660.5(DOK7):c.772+8C>G

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