ClinVar Miner

List of variants in gene GPC6 reported as uncertain significance for autosomal recessive omodysplasia

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 87
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HGVS dbSNP gnomAD frequency
NM_005708.5(GPC6):c.*1610A>C rs189449594 0.00249
NM_005708.5(GPC6):c.*1419C>T rs184249476 0.00248
NM_005708.5(GPC6):c.-307T>A rs184142888 0.00225
NM_005708.5(GPC6):c.*3571T>C rs559842905 0.00106
NM_005708.5(GPC6):c.1485A>T (p.Ser495=) rs140343089 0.00089
NM_005708.5(GPC6):c.*4236G>A rs569687072 0.00083
NM_005708.5(GPC6):c.*134A>G rs187678452 0.00081
NM_005708.5(GPC6):c.*1188T>C rs577982355 0.00044
NM_005708.5(GPC6):c.*1035C>T rs555535068 0.00035
NM_005708.5(GPC6):c.*1439T>C rs117005708 0.00031
NM_005708.5(GPC6):c.*135T>C rs373108111 0.00026
NM_005708.5(GPC6):c.*1169T>C rs886050353 0.00023
NM_005708.5(GPC6):c.*3234A>G rs564307867 0.00022
NM_005708.5(GPC6):c.*3497G>A rs563025003 0.00021
NM_005708.5(GPC6):c.-100G>A rs535904928 0.00021
NM_005708.5(GPC6):c.*3623G>A rs577207799 0.00020
NM_005708.5(GPC6):c.*2455C>T rs890586055 0.00017
NM_005708.5(GPC6):c.*1792G>A rs184597485 0.00016
NM_005708.5(GPC6):c.-69C>T rs533965995 0.00016
NM_005708.5(GPC6):c.-478C>G rs960460306 0.00015
NM_005708.5(GPC6):c.*1474A>G rs775211366 0.00013
NM_005708.5(GPC6):c.*422A>G rs776540396 0.00012
NM_005708.5(GPC6):c.*1472G>C rs562122626 0.00011
NM_005708.5(GPC6):c.1524G>A (p.Thr508=) rs767667871 0.00011
NM_005708.5(GPC6):c.1601G>A (p.Arg534His) rs142131323 0.00011
NM_005708.5(GPC6):c.*2799G>A rs886050359 0.00010
NM_005708.5(GPC6):c.1129G>A (p.Ala377Thr) rs779691812 0.00010
NM_005708.5(GPC6):c.*22A>G rs751143307 0.00007
NM_005708.5(GPC6):c.*254C>T rs964546497 0.00007
NM_005708.5(GPC6):c.*1375C>T rs868223184 0.00006
NM_005708.5(GPC6):c.*3639G>A rs546159818 0.00006
NM_005708.5(GPC6):c.1033A>G (p.Lys345Glu) rs773575076 0.00006
NM_005708.5(GPC6):c.1037C>T (p.Pro346Leu) rs760976594 0.00006
NM_005708.5(GPC6):c.1216A>G (p.Ile406Val) rs760752648 0.00006
NM_005708.5(GPC6):c.*1897G>C rs905014383 0.00004
NM_005708.5(GPC6):c.-133G>T rs550165187 0.00004
NM_005708.5(GPC6):c.*1800T>G rs886050357 0.00003
NM_005708.5(GPC6):c.*2852C>G rs886050360 0.00003
NM_005708.5(GPC6):c.-442C>T rs886050348 0.00003
NM_005708.5(GPC6):c.1162A>G (p.Ile388Val) rs144734105 0.00003
NM_005708.5(GPC6):c.1512C>T (p.Asp504=) rs776151903 0.00003
NM_005708.5(GPC6):c.*1983T>G rs557395539 0.00002
NM_005708.5(GPC6):c.*2269G>A rs1412559163 0.00002
NM_005708.5(GPC6):c.1088G>A (p.Arg363His) rs765468152 0.00002
NM_005708.5(GPC6):c.1436A>G (p.Asn479Ser) rs566070024 0.00002
NM_005708.5(GPC6):c.1496G>A (p.Ser499Asn) rs374652762 0.00002
NM_005708.5(GPC6):c.*1026T>G rs535690035 0.00001
NM_005708.5(GPC6):c.*1528G>A rs1044895583 0.00001
NM_005708.5(GPC6):c.*2305C>T rs1881332563 0.00001
NM_005708.5(GPC6):c.*3118A>G rs1244841063 0.00001
NM_005708.5(GPC6):c.*3701G>A rs886050362 0.00001
NM_005708.5(GPC6):c.*3716A>T rs886050363 0.00001
NM_005708.5(GPC6):c.*4476A>G rs886050366 0.00001
NM_005708.5(GPC6):c.*522G>A rs886050351 0.00001
NM_005708.5(GPC6):c.1566C>T (p.Pro522=) rs1278326769 0.00001
NM_005708.5(GPC6):c.485A>G (p.Asn162Ser) rs763222689 0.00001
NM_005708.5(GPC6):c.49C>A (p.Leu17Ile) rs748464893 0.00001
NM_005708.5(GPC6):c.585C>T (p.Asp195=) rs369467067 0.00001
NM_005708.5(GPC6):c.*1032C>T rs1187061045
NM_005708.5(GPC6):c.*1225C>G rs886050354
NM_005708.5(GPC6):c.*1457C>G rs1881296953
NM_005708.5(GPC6):c.*1473T>C rs886050355
NM_005708.5(GPC6):c.*1693C>A rs954752088
NM_005708.5(GPC6):c.*2212T>C rs573838514
NM_005708.5(GPC6):c.*2240G>A rs559244686
NM_005708.5(GPC6):c.*2299A>G rs886050358
NM_005708.5(GPC6):c.*2582C>G rs971165085
NM_005708.5(GPC6):c.*2646T>G rs1049854240
NM_005708.5(GPC6):c.*2791G>T rs376359118
NM_005708.5(GPC6):c.*3031G>A rs1881361098
NM_005708.5(GPC6):c.*3308G>A rs550634156
NM_005708.5(GPC6):c.*3439T>C rs886050361
NM_005708.5(GPC6):c.*3869A>G rs886050364
NM_005708.5(GPC6):c.*4239A>G rs886050365
NM_005708.5(GPC6):c.*4424T>G rs959917191
NM_005708.5(GPC6):c.*734C>A rs1594246444
NM_005708.5(GPC6):c.-113G>A rs1875825383
NM_005708.5(GPC6):c.-23G>T rs574131434
NM_005708.5(GPC6):c.-248G>A rs1195618642
NM_005708.5(GPC6):c.1137A>C (p.Thr379=) rs747340600
NM_005708.5(GPC6):c.1228G>A (p.Glu410Lys)
NM_005708.5(GPC6):c.1289+13C>T rs769274919
NM_005708.5(GPC6):c.141C>T (p.Ile47=) rs773995249
NM_005708.5(GPC6):c.1570C>T (p.Arg524Trp) rs147610049
NM_005708.5(GPC6):c.161-4G>T rs886050349
NM_005708.5(GPC6):c.284G>A (p.Arg95His) rs1296709144
NM_005708.5(GPC6):c.711+7G>A rs201788495

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