ClinVar Miner

List of variants in gene FLG reported by GeneDx

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Gene type:
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Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_002016.2(FLG):c.10735A>G (p.Thr3579Ala) rs140128255 0.00575
NM_002016.2(FLG):c.10734C>T (p.Pro3578=) rs527359114 0.00568
NM_002016.2(FLG):c.779C>A (p.Ser260Ter) rs199885226 0.00003
NM_002016.2(FLG):c.5186C>G (p.Ser1729Ter) rs1203718709 0.00001
NM_002016.2(FLG):c.5230C>T (p.Gln1744Ter) rs972579811 0.00001
NM_002016.2(FLG):c.9595C>T (p.Gln3199Ter) rs1553211362 0.00001
NM_002016.2(FLG):c.10191del (p.Glu3397fs) rs1064795983
NM_002016.2(FLG):c.10746C>A (p.His3582Gln) rs75279506
NM_002016.2(FLG):c.11035del (p.Val3679fs) rs1570893617
NM_002016.2(FLG):c.11227C>T (p.Arg3743Ter) rs142421644
NM_002016.2(FLG):c.11528C>G (p.Ser3843Ter) rs1057518212
NM_002016.2(FLG):c.138+40_138+42del rs112911800
NM_002016.2(FLG):c.139-119del rs34224823
NM_002016.2(FLG):c.1685C>A (p.Ser562Ter) rs754567575
NM_002016.2(FLG):c.2906del (p.Asn969fs) rs1064796274
NM_002016.2(FLG):c.3010C>T (p.Gln1004Ter) rs1486805206
NM_002016.2(FLG):c.3254_3257del (p.Ser1085fs) rs41370446
NM_002016.2(FLG):c.3510del (p.Ser1171fs) rs1370544496
NM_002016.2(FLG):c.3551C>A (p.Ser1184Ter) rs3120649
NM_002016.2(FLG):c.4004_4005del (p.Glu1335fs) rs1057517973
NM_002016.2(FLG):c.4786C>T (p.Gln1596Ter) rs756998312
NM_002016.2(FLG):c.482_485del (p.Arg161fs) rs1168180592
NM_002016.2(FLG):c.5871_5872inv (p.Gly1958Arg)
NM_002016.2(FLG):c.63del (p.Asp22fs) rs756605558
NM_002016.2(FLG):c.7081C>T (p.Arg2361Ter) rs528961889
NM_002016.2(FLG):c.7358C>A (p.Ser2453Ter) rs1388479165
NM_002016.2(FLG):c.8964C>G (p.Ser2988Arg) rs1374052150
NM_002016.2(FLG):c.9061G>T (p.Gly3021Ter) rs1651921400
NM_002016.2(FLG):c.9280del (p.Ala3094fs) rs777848510
NM_002016.2(FLG):c.9683_9684del (p.Asp3227_Ser3228insTer) rs2101637757
NM_002016.2(FLG):c.9722del (p.Gly3241fs) rs1064796105

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