ClinVar Miner

List of variants reported as uncertain significance for brittle cornea syndrome by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 38
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HGVS dbSNP gnomAD frequency
NM_001367624.2(ZNF469):c.10888C>T (p.Arg3630Cys) rs200668806 0.00179
NM_001367624.2(ZNF469):c.10330G>C (p.Gly3444Arg) rs569602115 0.00135
NM_001367624.2(ZNF469):c.8788G>T (p.Asp2930Tyr) rs76792613 0.00133
NM_001367624.2(ZNF469):c.8705C>T (p.Thr2902Met) rs536725615 0.00115
NM_001367624.2(ZNF469):c.1483C>T (p.Pro495Ser) rs202205643 0.00073
NM_001367624.2(ZNF469):c.9919A>G (p.Thr3307Ala) rs273585627 0.00072
NM_001367624.2(ZNF469):c.11318G>A (p.Arg3773Gln) rs571622809 0.00056
NM_001367624.2(ZNF469):c.9079C>T (p.Arg3027Cys) rs376513000 0.00052
NM_001367624.2(ZNF469):c.10762G>A (p.Gly3588Arg) rs750481489 0.00041
NM_001367624.2(ZNF469):c.4952A>G (p.Gln1651Arg) rs773925755 0.00034
NM_001367624.2(ZNF469):c.7265C>A (p.Ser2422Tyr) rs201540905 0.00032
NM_001367624.2(ZNF469):c.5914G>A (p.Gly1972Arg) rs766410344 0.00019
NM_001367624.2(ZNF469):c.5144G>A (p.Arg1715Lys) rs281865149 0.00017
NM_001367624.2(ZNF469):c.7312C>G (p.Pro2438Ala) rs546332627 0.00017
NM_001367624.2(ZNF469):c.676G>A (p.Glu226Lys) rs546141859 0.00014
NM_001367624.2(ZNF469):c.941C>T (p.Pro314Leu) rs777666112 0.00013
NM_018699.4(PRDM5):c.248G>A (p.Arg83His) rs201945549 0.00012
NM_001367624.2(ZNF469):c.2693C>T (p.Pro898Leu) rs754458926 0.00011
NM_001367624.2(ZNF469):c.11545C>T (p.Arg3849Trp) rs770109867 0.00009
NM_001367624.2(ZNF469):c.3452C>T (p.Ala1151Val) rs755348435 0.00009
NM_001367624.2(ZNF469):c.4972T>A (p.Trp1658Arg) rs554985503 0.00008
NM_001367624.2(ZNF469):c.4829G>A (p.Arg1610His) rs567038987 0.00007
NM_001367624.2(ZNF469):c.585C>G (p.Asn195Lys) rs896312288 0.00007
NM_001367624.2(ZNF469):c.5779C>T (p.Pro1927Ser) rs537085488 0.00006
NM_001367624.2(ZNF469):c.8458G>A (p.Gly2820Ser) rs761603858 0.00006
NM_018699.4(PRDM5):c.740C>T (p.Ser247Leu) rs187637689 0.00006
NM_001367624.2(ZNF469):c.745G>A (p.Gly249Arg) rs1163683032 0.00005
NM_001367624.2(ZNF469):c.536G>C (p.Gly179Ala) rs760014906 0.00004
NM_001367624.2(ZNF469):c.1882C>A (p.Pro628Thr) rs886052393 0.00003
NM_001367624.2(ZNF469):c.8599G>A (p.Gly2867Ser) rs745468033 0.00003
NM_001367624.2(ZNF469):c.10805C>T (p.Pro3602Leu) rs764764326 0.00002
NM_001367624.2(ZNF469):c.9320C>T (p.Pro3107Leu) rs1208219883 0.00002
NM_001367624.2(ZNF469):c.1856G>T (p.Ser619Ile) rs1187845779 0.00001
NM_001367624.2(ZNF469):c.9131C>T (p.Thr3044Met) rs273585626 0.00001
NM_001367624.2(ZNF469):c.9316C>T (p.Arg3106Trp) rs1292941352 0.00001
NM_001367624.2(ZNF469):c.4447G>A (p.Ala1483Thr) rs273585620
NM_001367624.2(ZNF469):c.765_770dup (p.254EP[3]) rs1905840452
NM_001367624.2(ZNF469):c.9368G>A (p.Arg3123His) rs536601676

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