ClinVar Miner

List of variants reported as likely pathogenic for fetal akinesia deformation sequence by Baylor Genetics

Included ClinVar conditions (14):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 76
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_005055.5(RAPSN):c.133G>A (p.Val45Met) rs121909254 0.00006
NM_005055.5(RAPSN):c.848T>C (p.Leu283Pro) rs104894293 0.00004
NM_173660.5(DOK7):c.437C>T (p.Pro146Leu) rs770987150 0.00003
NM_005055.5(RAPSN):c.490C>T (p.Arg164Cys) rs104894294 0.00002
NM_173660.5(DOK7):c.773-2_773-1del rs770163440 0.00002
NM_005055.5(RAPSN):c.41T>C (p.Leu14Pro) rs104894300 0.00001
NM_005055.5(RAPSN):c.425C>A (p.Ala142Asp) rs368695664 0.00001
NM_005055.5(RAPSN):c.439G>A (p.Glu147Lys) rs560525099 0.00001
NM_005055.5(RAPSN):c.493G>A (p.Val165Met) rs761584017 0.00001
NM_005055.5(RAPSN):c.531+1G>T rs1421354085 0.00001
NM_005055.5(RAPSN):c.61C>T (p.Gln21Ter) rs1595903667 0.00001
NM_005055.5(RAPSN):c.872G>A (p.Gly291Asp) rs374604570 0.00001
NM_173660.5(DOK7):c.496G>A (p.Gly166Arg) rs781227659 0.00001
NM_005055.5(RAPSN):c.1142dup (p.Cys382fs)
NM_005055.5(RAPSN):c.1174C>T (p.Gln392Ter)
NM_005055.5(RAPSN):c.11dup (p.Asp4fs) rs1565689206
NM_005055.5(RAPSN):c.1207del (p.Arg403fs)
NM_005055.5(RAPSN):c.157del (p.His53fs)
NM_005055.5(RAPSN):c.193-5_201del
NM_005055.5(RAPSN):c.210del (p.Ile70fs) rs760999895
NM_005055.5(RAPSN):c.288del (p.Cys97fs)
NM_005055.5(RAPSN):c.300_319del (p.His100fs) rs2153311290
NM_005055.5(RAPSN):c.39del (p.Leu14fs)
NM_005055.5(RAPSN):c.418C>T (p.Gln140Ter) rs2153311231
NM_005055.5(RAPSN):c.422del (p.Lys141fs)
NM_005055.5(RAPSN):c.457G>A (p.Ala153Thr) rs142635726
NM_005055.5(RAPSN):c.491G>A (p.Arg164His)
NM_005055.5(RAPSN):c.599G>A (p.Trp200Ter) rs1595899478
NM_005055.5(RAPSN):c.724C>T (p.Arg242Trp)
NM_005055.5(RAPSN):c.733C>T (p.Gln245Ter)
NM_005055.5(RAPSN):c.737_738insA (p.Leu247fs)
NM_005055.5(RAPSN):c.86G>A (p.Trp29Ter)
NM_005055.5(RAPSN):c.913-1G>C
NM_005055.5(RAPSN):c.967-2A>G
NM_173660.5(DOK7):c.1164C>A (p.Cys388Ter)
NM_173660.5(DOK7):c.1185C>G (p.Tyr395Ter)
NM_173660.5(DOK7):c.1243_1340del (p.Pro415fs)
NM_173660.5(DOK7):c.1247_1250dup (p.Asp417fs)
NM_173660.5(DOK7):c.1256dup (p.Ser419fs)
NM_173660.5(DOK7):c.1264dup (p.Ser422fs)
NM_173660.5(DOK7):c.1267C>T (p.Gln423Ter) rs1728650830
NM_173660.5(DOK7):c.1323del (p.Cys442fs) rs1210035894
NM_173660.5(DOK7):c.1339_1342del (p.Leu447fs)
NM_173660.5(DOK7):c.1356_1360del (p.Leu454fs)
NM_173660.5(DOK7):c.1417G>T (p.Glu473Ter)
NM_173660.5(DOK7):c.1424G>A (p.Trp475Ter)
NM_173660.5(DOK7):c.1476_1477insA (p.Pro493fs)
NM_173660.5(DOK7):c.1501_1502del (p.Asn501fs)
NM_173660.5(DOK7):c.28del (p.Gln10fs) rs1560200925
NM_173660.5(DOK7):c.332-1G>A rs1490214819
NM_173660.5(DOK7):c.379G>A (p.Gly127Ser)
NM_173660.5(DOK7):c.391_394dup (p.His132fs)
NM_173660.5(DOK7):c.414C>T (p.Leu138=)
NM_173660.5(DOK7):c.415G>C (p.Val139Leu) rs571769859
NM_173660.5(DOK7):c.451C>T (p.Gln151Ter)
NM_173660.5(DOK7):c.513C>T (p.Gly171=) rs775583136
NM_173660.5(DOK7):c.536_540del (p.Ala179fs)
NM_173660.5(DOK7):c.54+25_55-38del rs769850502
NM_173660.5(DOK7):c.55-25_55-1del
NM_173660.5(DOK7):c.550del (p.Leu184fs)
NM_173660.5(DOK7):c.653-3C>G
NM_173660.5(DOK7):c.665del (p.Pro222fs)
NM_173660.5(DOK7):c.682G>T (p.Glu228Ter)
NM_173660.5(DOK7):c.685G>T (p.Glu229Ter)
NM_173660.5(DOK7):c.743_746dup (p.His250fs) rs1560224831
NM_173660.5(DOK7):c.746C>G (p.Ser249Ter)
NM_173660.5(DOK7):c.765_772+11del
NM_173660.5(DOK7):c.812_815dup (p.His272fs)
NM_173660.5(DOK7):c.851G>A (p.Trp284Ter)
NM_173660.5(DOK7):c.872C>G (p.Ser291Ter)
NM_173660.5(DOK7):c.884C>G (p.Ser295Ter)
NM_173660.5(DOK7):c.886C>T (p.Gln296Ter)
NM_173660.5(DOK7):c.897_912del (p.Ala302fs)
NM_173660.5(DOK7):c.944C>G (p.Ser315Ter)
NM_173660.5(DOK7):c.957dup (p.Lys320fs) rs794727884
NM_173660.5(DOK7):c.976C>T (p.Gln326Ter)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.