ClinVar Miner

List of variants studied for Klippel-Feil syndrome 1, autosomal dominant

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 57
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HGVS dbSNP
NM_001001557.3(GDF6):c.*2243G>C rs142786788
NM_001001557.4(GDF6):c.*1084C>A rs77181285
NM_001001557.4(GDF6):c.*1090G>C rs80085212
NM_001001557.4(GDF6):c.*1429_*1430del rs139734303
NM_001001557.4(GDF6):c.*144G>A rs115887213
NM_001001557.4(GDF6):c.*165C>T rs117125307
NM_001001557.4(GDF6):c.*1671C>T rs191538930
NM_001001557.4(GDF6):c.*172A>G rs115207215
NM_001001557.4(GDF6):c.*2001A>G rs36028712
NM_001001557.4(GDF6):c.*2122C>T rs183472001
NM_001001557.4(GDF6):c.*2170A>C rs141085775
NM_001001557.4(GDF6):c.*2195C>T rs114060293
NM_001001557.4(GDF6):c.*2214C>T rs188995955
NM_001001557.4(GDF6):c.*2216C>T rs7003079
NM_001001557.4(GDF6):c.*249G>A rs886063206
NM_001001557.4(GDF6):c.*268G>C rs575001243
NM_001001557.4(GDF6):c.*268_*275delinsCTTT rs886063205
NM_001001557.4(GDF6):c.*271_*272insC rs1554571161
NM_001001557.4(GDF6):c.*271_*272insCTC rs1554571161
NM_001001557.4(GDF6):c.*272_*278del rs886063203
NM_001001557.4(GDF6):c.*273_*274CT[20] rs71275339
NM_001001557.4(GDF6):c.*276T>C rs886063204
NM_001001557.4(GDF6):c.*280T>C rs886063202
NM_001001557.4(GDF6):c.*288T>A rs886063201
NM_001001557.4(GDF6):c.*28G>A rs367847329
NM_001001557.4(GDF6):c.*320_*321insCTTT rs886063199
NM_001001557.4(GDF6):c.*321_*322del rs886063198
NM_001001557.4(GDF6):c.*322_*323insTT rs886063197
NM_001001557.4(GDF6):c.*380A>G rs2440199
NM_001001557.4(GDF6):c.*577A>T rs75587676
NM_001001557.4(GDF6):c.*58G>A rs886063207
NM_001001557.4(GDF6):c.*653C>A rs886063196
NM_001001557.4(GDF6):c.*711G>T rs73698505
NM_001001557.4(GDF6):c.*767T>C rs569599062
NM_001001557.4(GDF6):c.*781G>A rs528002823
NM_001001557.4(GDF6):c.*842T>C rs192657480
NM_001001557.4(GDF6):c.*891G>A rs376103537
NM_001001557.4(GDF6):c.*998G>C rs114201878
NM_001001557.4(GDF6):c.1233C>T (p.Asp411=) rs774375234
NM_001001557.4(GDF6):c.125G>T (p.Gly42Val) rs121909354
NM_001001557.4(GDF6):c.1271A>G (p.Lys424Arg) rs121909353
NM_001001557.4(GDF6):c.1304C>T (p.Ala435Val) rs140782427
NM_001001557.4(GDF6):c.255G>T (p.Pro85=) rs112296824
NM_001001557.4(GDF6):c.356A>G (p.Gln119Arg) rs140579014
NM_001001557.4(GDF6):c.499C>T (p.Arg167Trp) rs886063209
NM_001001557.4(GDF6):c.741G>A (p.Ala247=) rs563560538
NM_001001557.4(GDF6):c.742C>A (p.Arg248Ser) rs750809706
NM_001001557.4(GDF6):c.746C>A (p.Ala249Glu) rs121909352
NM_001001557.4(GDF6):c.770C>T (p.Pro257Leu) rs886063208
NM_001001557.4(GDF6):c.852C>G (p.Ser284=) rs74498875
NM_001001557.4(GDF6):c.866T>C (p.Leu289Pro) rs63751220
NM_001001557.4(GDF6):c.870C>T (p.Phe290=) rs765928590
NM_001001557.4(GDF6):c.936G>C (p.Ser312=) rs148861809
NM_001001557.4(GDF6):c.957C>A (p.Ala319=) rs757525366
NM_032608.7(MYO18B):c.5038dup (p.Glu1680fs) rs1569172839
NM_032608.7(MYO18B):c.736G>T (p.Gly246Trp) rs1568989210
NM_198578.4(LRRK2):c.4883G>C (p.Arg1628Pro) rs33949390

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