List of variants in gene FLG reported by Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 22

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HGVS	dbSNP	gnomAD frequency
NM_002016.2(FLG):c.6190A>C (p.Lys2064Gln)	rs74129455	0.10140
NM_002016.2(FLG):c.10262G>A (p.Ser3421Asn)	rs139262132	0.00570
NM_002016.2(FLG):c.9947C>G (p.Ser3316Ter)	rs149484917	0.00246
NM_002016.2(FLG):c.8660A>C (p.Gln2887Pro)	rs143280202	0.00196
NM_002016.2(FLG):c.10672T>C (p.Ser3558Pro)	rs185760814	0.00184
NM_002016.2(FLG):c.9740C>A (p.Ser3247Ter)	rs150597413	0.00144
NM_002016.2(FLG):c.3338G>A (p.Arg1113His)	rs140923774	0.00086
NM_002016.2(FLG):c.6604G>A (p.Gly2202Ser)	rs146891517	0.00086
NM_002016.2(FLG):c.5355C>G (p.Ser1785Arg)	rs72477394	0.00085
NM_002016.2(FLG):c.6309C>A (p.Thr2103=)	rs72477392	0.00076
NM_002016.2(FLG):c.3321del (p.Gly1109fs)	rs200519781	0.00029
NM_002016.2(FLG):c.1378G>T (p.Glu460Ter)	rs199756380
NM_002016.2(FLG):c.2938C>G (p.His980Asp)	rs12756586
NM_002016.2(FLG):c.4240G>A (p.Gly1414Arg)	rs145962910
NM_002016.2(FLG):c.5828T>A (p.Leu1943His)	rs113544881
NM_002016.2(FLG):c.5839T>G (p.Trp1947Gly)	rs80059102
NM_002016.2(FLG):c.6430C>T (p.Pro2144Ser)	rs78771632
NM_002016.2(FLG):c.7956A>C (p.Glu2652Asp)	rs192116923
NM_002016.2(FLG):c.8878G>A (p.Gly2960Ser)	rs61690342
NM_002016.2(FLG):c.8928A>C (p.Glu2976Asp)	rs61816760
NM_002016.2(FLG):c.9536T>G (p.Val3179Gly)	rs2065957
NM_002016.2(FLG):c.9540A>G (p.Ser3180=)	rs3126069

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