ClinVar Miner

List of variants studied for Klippel-Feil syndrome by Illumina Laboratory Services, Illumina

Included ClinVar conditions (10):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 91
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HGVS dbSNP gnomAD frequency
NM_001001557.4(GDF6):c.*380A>G rs2440199 0.66099
NM_001001557.4(GDF6):c.*2001A>G rs36028712 0.07344
NM_001001557.4(GDF6):c.*711G>T rs73698505 0.05287
NM_001001557.4(GDF6):c.*2216C>T rs7003079 0.05046
NM_001001557.4(GDF6):c.*1429_*1430del rs139734303 0.03848
NM_001001557.4(GDF6):c.*144G>A rs115887213 0.02912
NM_001001557.4(GDF6):c.936G>C (p.Ser312=) rs148861809 0.02643
NM_001001557.4(GDF6):c.*1090G>C rs80085212 0.02491
NM_001001557.4(GDF6):c.*998G>C rs114201878 0.02016
NM_001001557.4(GDF6):c.*1084C>A rs77181285 0.02009
NM_001001557.4(GDF6):c.*577A>T rs75587676 0.01881
NM_001001557.4(GDF6):c.*172A>G rs115207215 0.01382
NM_001001557.4(GDF6):c.*2195C>T rs114060293 0.01004
NM_001001557.4(GDF6):c.*2170A>C rs141085775 0.00734
NM_001001557.4(GDF6):c.852C>G (p.Ser284=) rs74498875 0.00603
NM_001001557.4(GDF6):c.*1978G>A rs112542818 0.00421
NM_001001557.4(GDF6):c.*767T>C rs569599062 0.00369
NM_001001557.4(GDF6):c.255G>T (p.Pro85=) rs112296824 0.00366
NM_001001557.4(GDF6):c.*1671C>T rs191538930 0.00261
NM_001001557.4(GDF6):c.112G>C (p.Gly38Arg) rs139075817 0.00217
NM_001001557.4(GDF6):c.746C>A (p.Ala249Glu) rs121909352 0.00200
NM_001001557.4(GDF6):c.*842T>C rs192657480 0.00176
NM_001001557.4(GDF6):c.*165C>T rs117125307 0.00088
NM_001001557.4(GDF6):c.*28G>A rs367847329 0.00071
NM_001001557.4(GDF6):c.356A>G (p.Gln119Arg) rs140579014 0.00061
NM_001001557.4(GDF6):c.-86C>T rs966657559 0.00043
NM_001001557.4(GDF6):c.*273C>T rs868712251 0.00031
NM_001001557.4(GDF6):c.*620A>G rs558525706 0.00029
NM_001001557.4(GDF6):c.*271T>C rs1010244017 0.00027
NM_001001557.4(GDF6):c.*2214C>T rs188995955 0.00024
NM_001001557.4(GDF6):c.*288T>A rs886063201 0.00023
NM_001001557.4(GDF6):c.250G>A (p.Glu84Lys) rs148321868 0.00022
NM_001001557.3(GDF6):c.*2243G>C rs142786788 0.00017
NM_001001557.4(GDF6):c.*405G>A rs748670958 0.00017
NM_001001557.4(GDF6):c.24C>G (p.Leu8=) rs369859861 0.00016
NM_001001557.4(GDF6):c.*725C>A rs1027526616 0.00015
NM_001001557.4(GDF6):c.1304C>T (p.Ala435Val) rs140782427 0.00014
NM_001001557.4(GDF6):c.*2215G>A rs556295036 0.00013
NM_001001557.4(GDF6):c.957C>A (p.Ala319=) rs757525366 0.00009
NM_001001557.4(GDF6):c.*734T>C rs1472827175 0.00006
NM_001001557.4(GDF6):c.1251C>T (p.Pro417=) rs552124580 0.00006
NM_001001557.4(GDF6):c.*205T>C rs946850223 0.00004
NM_001001557.4(GDF6):c.*529C>G rs755510632 0.00004
NM_001001557.4(GDF6):c.*647C>T rs1035980687 0.00004
NM_001001557.4(GDF6):c.*891G>A rs376103537 0.00003
NM_001001557.4(GDF6):c.1271A>G (p.Lys424Arg) rs121909353 0.00003
NM_001001557.4(GDF6):c.770C>T (p.Pro257Leu) rs886063208 0.00003
NM_001001557.4(GDF6):c.*249G>A rs886063206 0.00002
NM_001001557.4(GDF6):c.1233C>T (p.Asp411=) rs774375234 0.00002
NM_001001557.4(GDF6):c.18C>T (p.Val6=) rs745979763 0.00002
NM_001001557.4(GDF6):c.*106A>T rs1328888318 0.00001
NM_001001557.4(GDF6):c.*1083C>T rs1812406807 0.00001
NM_001001557.4(GDF6):c.*27G>A rs897020711 0.00001
NM_001001557.4(GDF6):c.*333G>T rs1432039910 0.00001
NM_001001557.4(GDF6):c.*546G>C rs867944559 0.00001
NM_001001557.4(GDF6):c.*781G>A rs528002823 0.00001
NM_001001557.4(GDF6):c.*868C>T rs1469921299 0.00001
NM_001001557.4(GDF6):c.*908G>A rs1812409030 0.00001
NM_001001557.4(GDF6):c.407-5C>T rs758091453 0.00001
NM_001001557.4(GDF6):c.716A>G (p.Glu239Gly) rs1050890994 0.00001
NM_001001557.4(GDF6):c.741G>A (p.Ala247=) rs563560538 0.00001
NM_001001557.4(GDF6):c.742C>A (p.Arg248Ser) rs750809706 0.00001
NM_001001557.4(GDF6):c.743G>T (p.Arg248Leu) rs765707228 0.00001
NM_001001557.4(GDF6):c.817C>A (p.Gln273Lys) rs780167779 0.00001
NM_001001557.4(GDF6):c.*1043A>G rs1812407378
NM_001001557.4(GDF6):c.*1055G>A rs974182534
NM_001001557.4(GDF6):c.*1138G>A rs771172804
NM_001001557.4(GDF6):c.*1441C>T rs1812400204
NM_001001557.4(GDF6):c.*1781G>C rs779519494
NM_001001557.4(GDF6):c.*2122C>T rs183472001
NM_001001557.4(GDF6):c.*2189T>C rs1812387240
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.*273CT[20] rs71275339
NM_001001557.4(GDF6):c.*274T>C rs188749696
NM_001001557.4(GDF6):c.*276T>C rs886063204
NM_001001557.4(GDF6):c.*280T>C rs886063202
NM_001001557.4(GDF6):c.*319A>C rs10626175
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.*58G>A rs886063207
NM_001001557.4(GDF6):c.*653C>A rs886063196
NM_001001557.4(GDF6):c.1348G>A (p.Glu450Lys) rs1812436715
NM_001001557.4(GDF6):c.499C>T (p.Arg167Trp) rs886063209
NM_001001557.4(GDF6):c.701G>A (p.Arg234Gln) rs748092776
NM_001001557.4(GDF6):c.870C>T (p.Phe290=) rs765928590
NM_001001557.4(GDF6):c.955G>A (p.Ala319Thr) rs779322747

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