ClinVar Miner

List of variants in gene combination CCDST, FLG reported as uncertain significance for Ichthyosis vulgaris

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Total variants: 50
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HGVS dbSNP gnomAD frequency
NM_002016.2(FLG):c.2804G>C (p.Gly935Ala) rs150503113 0.00182
NM_002016.2(FLG):c.4279G>A (p.Ala1427Thr) rs148844389 0.00049
NM_002016.2(FLG):c.12064A>T (p.Lys4022Ter) rs146466242 0.00045
NM_002016.2(FLG):c.7634G>T (p.Gly2545Val) rs145899257 0.00035
NM_002016.2(FLG):c.6065T>C (p.Ile2022Thr) rs142592778 0.00011
NM_002016.2(FLG):c.9428C>T (p.Thr3143Ile) rs139449805 0.00011
NM_002016.2(FLG):c.7459C>A (p.His2487Asn) rs550139731 0.00009
NM_002016.2(FLG):c.8497G>T (p.Gly2833Ter) rs771543103 0.00009
NM_002016.2(FLG):c.440C>T (p.Thr147Ile) rs779997918 0.00005
NM_002016.2(FLG):c.4966C>T (p.Arg1656Cys) rs775926509 0.00003
NM_002016.2(FLG):c.7597C>T (p.Arg2533Cys) rs373225696 0.00003
NM_002016.2(FLG):c.2057A>C (p.Gln686Pro) rs755034552 0.00002
NM_002016.2(FLG):c.10054A>G (p.Thr3352Ala) rs759537361 0.00001
NM_002016.2(FLG):c.10324A>T (p.Arg3442Ter) rs764094665 0.00001
NM_002016.2(FLG):c.5476G>T (p.Gly1826Ter) rs760904028 0.00001
NM_002016.2(FLG):c.10012A>T (p.Ser3338Cys) rs1553211230
NM_002016.2(FLG):c.10087C>A (p.Pro3363Thr)
NM_002016.2(FLG):c.10400C>T (p.Thr3467Ile)
NM_002016.2(FLG):c.10670G>A (p.Gly3557Glu) rs142157664
NM_002016.2(FLG):c.11290T>C (p.Ser3764Pro)
NM_002016.2(FLG):c.11539C>T (p.Gln3847Ter) rs1651717933
NM_002016.2(FLG):c.1217C>T (p.Ser406Leu)
NM_002016.2(FLG):c.2039del (p.Lys679_Ser680insTer) rs2525207687
NM_002016.2(FLG):c.2447T>G (p.Val816Gly)
NM_002016.2(FLG):c.2522T>A (p.Ile841Asn)
NM_002016.2(FLG):c.2579C>G (p.Ser860Trp)
NM_002016.2(FLG):c.2807C>A (p.Ser936Tyr)
NM_002016.2(FLG):c.2809A>G (p.Arg937Gly)
NM_002016.2(FLG):c.3023C>G (p.Pro1008Arg)
NM_002016.2(FLG):c.3184G>A (p.Gly1062Arg)
NM_002016.2(FLG):c.3280C>A (p.Pro1094Thr) rs1431321161
NM_002016.2(FLG):c.3381_3385del (p.Glu1128fs)
NM_002016.2(FLG):c.3387del (p.Ala1130fs)
NM_002016.2(FLG):c.3401C>T (p.Thr1134Ile)
NM_002016.2(FLG):c.3436C>A (p.His1146Asn) rs376703034
NM_002016.2(FLG):c.4597G>T (p.Gly1533Trp) rs200422428
NM_002016.2(FLG):c.4700G>A (p.Arg1567Gln)
NM_002016.2(FLG):c.5096G>A (p.Arg1699His)
NM_002016.2(FLG):c.5270A>G (p.Glu1757Gly)
NM_002016.2(FLG):c.565G>A (p.Glu189Lys) rs1228611224
NM_002016.2(FLG):c.5803T>C (p.Ser1935Pro)
NM_002016.2(FLG):c.5881C>T (p.His1961Tyr)
NM_002016.2(FLG):c.6032_6034del (p.Leu2011del) rs770070270
NM_002016.2(FLG):c.7528T>A (p.Ser2510Thr)
NM_002016.2(FLG):c.7645G>T (p.Val2549Leu) rs200963639
NM_002016.2(FLG):c.8671G>T (p.Val2891Leu) rs1446923658
NM_002016.2(FLG):c.886A>G (p.Arg296Gly)
NM_002016.2(FLG):c.9628C>T (p.Arg3210Cys)
NM_002016.2(FLG):c.9743G>T (p.Arg3248Met)
NM_002016.2(FLG):c.9956C>A (p.Pro3319Gln)

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