ClinVar Miner

List of variants studied for Neuroferritinopathy by Illumina Laboratory Services, Illumina

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Total variants: 39
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HGVS dbSNP gnomAD frequency
NM_000146.4(FTL):c.163T>C (p.Leu55=) rs2230267 0.51379
NM_002103.5(GYS1):c.*725C>T rs1042265 0.08927
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_000146.4(FTL):c.522C>T (p.His174=) rs73046709 0.00184
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_000146.4(FTL):c.*24C>T rs368083362 0.00037
NM_002103.5(GYS1):c.2043C>T (p.Ala681=) rs142265031 0.00023
NM_000146.4(FTL):c.169G>A (p.Glu57Lys) rs201241191 0.00016
NM_002103.5(GYS1):c.*370A>C rs185366453 0.00015
NM_000146.4(FTL):c.250-6A>G rs370216913 0.00009
NM_002103.5(GYS1):c.*659C>T rs367578611 0.00006
NM_000146.4(FTL):c.*8C>T rs373178636 0.00005
NM_002103.5(GYS1):c.2207G>A (p.Arg736His) rs367919986 0.00004
NM_000146.4(FTL):c.73C>T (p.Leu25=) rs201971200 0.00003
NM_002103.5(GYS1):c.*611C>T rs370792196 0.00003
NM_000146.4(FTL):c.-46C>A rs768457741 0.00002
NM_000146.4(FTL):c.*131A>T rs374919004 0.00001
NM_000146.4(FTL):c.-86C>T rs1319264120 0.00001
NM_000146.4(FTL):c.-92T>C rs886054563 0.00001
NM_000146.4(FTL):c.362G>A (p.Arg121His) rs769449169 0.00001
NM_000146.4(FTL):c.*76G>A rs2038463168
NM_000146.4(FTL):c.-173C>G rs1053572388
NM_000146.4(FTL):c.-186C>A rs981348025
NM_000146.4(FTL):c.103-14A>C rs769222073
NM_000146.4(FTL):c.103-14A>G rs769222073
NM_000146.4(FTL):c.181G>A (p.Glu61Lys) rs2038446561
NM_000146.4(FTL):c.232C>T (p.Leu78Phe) rs751857518
NM_000146.4(FTL):c.234C>T (p.Leu78=) rs559383814
NM_000146.4(FTL):c.324C>T (p.Asn108=) rs754652110
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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