ClinVar Miner

List of variants reported as likely benign for Neuroferritinopathy

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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_002103.5(GYS1):c.*841A>G rs75797604 0.01139
NM_002103.5(GYS1):c.1926G>A (p.Val642=) rs5451 0.00912
NM_002103.5(GYS1):c.*908G>A rs117997270 0.00664
NM_002103.5(GYS1):c.2013C>T (p.Asp671=) rs5452 0.00624
NM_002103.5(GYS1):c.*450G>A rs3745693 0.00414
NM_002103.5(GYS1):c.*301G>A rs147489255 0.00165
NM_002103.5(GYS1):c.1848C>T (p.Ala616=) rs145789213 0.00163
NM_002103.5(GYS1):c.*421A>G rs181566066 0.00098
NM_002103.5(GYS1):c.*868A>G rs571576339 0.00083
NM_002103.5(GYS1):c.2043C>T (p.Ala681=) rs142265031 0.00023
NM_002103.5(GYS1):c.*370A>C rs185366453 0.00015
NM_002103.5(GYS1):c.*659C>T rs367578611 0.00006
NM_002103.5(GYS1):c.2207G>A (p.Arg736His) rs367919986 0.00004
NM_002103.5(GYS1):c.*611C>T rs370792196 0.00003
NM_000146.4(FTL):c.362G>A (p.Arg121His) rs769449169 0.00001
NM_000146.4(FTL):c.103-14A>C rs769222073
NM_002103.5(GYS1):c.*1113_*1116del rs148396922
NM_002103.5(GYS1):c.1615G>A (p.Glu539Lys) rs561646250
NM_002103.5(GYS1):c.1749C>A (p.Ile583=) rs146698792

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