ClinVar Miner

List of variants studied for Hereditary hyperferritinemia with congenital cataracts; Neuroferritinopathy

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Total variants: 140
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HGVS dbSNP gnomAD frequency
NM_000146.4(FTL):c.163T>C (p.Leu55=) rs2230267 0.51379
NM_000146.4(FTL):c.522C>T (p.His174=) rs73046709 0.00184
NM_000146.4(FTL):c.520C>T (p.His174Tyr) rs1803578 0.00042
NM_000146.4(FTL):c.-121C>T rs11553228 0.00031
NM_000146.4(FTL):c.169G>A (p.Glu57Lys) rs201241191 0.00016
NM_000146.4(FTL):c.-177C>T rs988614907 0.00012
NM_000146.4(FTL):c.250-6A>G rs370216913 0.00009
NM_000146.4(FTL):c.155T>G (p.Phe52Cys) rs543242420 0.00006
NM_000146.4(FTL):c.436G>A (p.Gly146Ser) rs111962558 0.00005
NM_000146.4(FTL):c.87C>T (p.Tyr29=) rs779990778 0.00004
NC_000019.10:g.48965277C>T rs960442161 0.00003
NM_000146.4(FTL):c.375+4C>T rs369864128 0.00003
NM_000146.4(FTL):c.474G>A (p.Pro158=) rs758414077 0.00003
NM_000146.4(FTL):c.73C>T (p.Leu25=) rs201971200 0.00003
NM_000146.4(FTL):c.-46C>A rs768457741 0.00002
NM_000146.4(FTL):c.319C>T (p.Leu107=) rs751923171 0.00002
NM_000146.4(FTL):c.466G>A (p.Gly156Ser) rs151265703 0.00002
NM_000146.4(FTL):c.-134A>T rs1463766648 0.00001
NM_000146.4(FTL):c.-168G>A rs398124635 0.00001
NM_000146.4(FTL):c.-190C>T rs1379884083 0.00001
NM_000146.4(FTL):c.-92T>C rs886054563 0.00001
NM_000146.4(FTL):c.17G>A (p.Arg6His) rs1012743580 0.00001
NM_000146.4(FTL):c.199C>T (p.Leu67=) rs371965152 0.00001
NM_000146.4(FTL):c.1A>G (p.Met1Val) rs139732572 0.00001
NM_000146.4(FTL):c.207G>A (p.Met69Ile) rs1131691701 0.00001
NM_000146.4(FTL):c.302T>C (p.Met101Thr) rs750964137 0.00001
NM_000146.4(FTL):c.362G>A (p.Arg121His) rs769449169 0.00001
NM_000146.4(FTL):c.375+5G>A rs768867643 0.00001
NM_000146.4(FTL):c.473C>T (p.Pro158Leu) rs374486686 0.00001
NM_000146.4(FTL):c.492G>T (p.Glu164Asp) rs770946603 0.00001
NC_000019.10:g.(?_48966261)_(48966755_?)del
NC_000019.10:g.48965260T>G
NC_000019.10:g.48965263G>A rs1034875270
NC_000019.10:g.48965263G>C
NC_000019.10:g.48965270G>C
NC_000019.10:g.48965301dup
NC_000019.10:g.48965303C>T
NC_000019.10:g.48965305C>T
NC_000019.10:g.48965306del rs748868187
NC_000019.9:g.(?_49468350)_(49481434_?)del
NM_000146.4(FTL):c.-10C>T
NM_000146.4(FTL):c.-111C>T
NM_000146.4(FTL):c.-120T>C
NM_000146.4(FTL):c.-125C>A
NM_000146.4(FTL):c.-126C>A
NM_000146.4(FTL):c.-139C>T rs2122429898
NM_000146.4(FTL):c.-143G>A
NM_000146.4(FTL):c.-144A>T
NM_000146.4(FTL):c.-148G>C rs2038438657
NM_000146.4(FTL):c.-149G>C rs398124638
NM_000146.4(FTL):c.-150C>A rs2038438612
NM_000146.4(FTL):c.-151A>G
NM_000146.4(FTL):c.-153G>A
NM_000146.4(FTL):c.-153G>T rs2122429855
NM_000146.4(FTL):c.-155T>C
NM_000146.4(FTL):c.-157G>A rs1600120873
NM_000146.4(FTL):c.-160A>G rs398124633
NM_000146.4(FTL):c.-161C>T rs398124636
NM_000146.4(FTL):c.-164C>A rs398124637
NM_000146.4(FTL):c.-166T>C rs2122429764
NM_000146.4(FTL):c.-167C>T rs2038438402
NM_000146.4(FTL):c.-167_-153del
NM_000146.4(FTL):c.-168G>C rs398124635
NM_000146.4(FTL):c.-168G>T rs398124635
NM_000146.4(FTL):c.-170T>C rs2122429714
NM_000146.4(FTL):c.-173C>G rs1053572388
NM_000146.4(FTL):c.-179G>A
NM_000146.4(FTL):c.-181G>A
NM_000146.4(FTL):c.-184C>G rs955876864
NM_000146.4(FTL):c.-186C>A rs981348025
NM_000146.4(FTL):c.-186C>T
NM_000146.4(FTL):c.-189G>T rs970038885
NM_000146.4(FTL):c.-193C>G rs2038437773
NM_000146.4(FTL):c.-196G>C rs2038437702
NM_000146.4(FTL):c.-24T>C
NM_000146.4(FTL):c.-51dup rs2122430255
NM_000146.4(FTL):c.-56G>T
NM_000146.4(FTL):c.-95C>A
NM_000146.4(FTL):c.-9C>T
NM_000146.4(FTL):c.102+14A>G rs2122431045
NM_000146.4(FTL):c.102+20C>T
NM_000146.4(FTL):c.102G>A (p.Leu34=)
NM_000146.4(FTL):c.103-14A>G rs769222073
NM_000146.4(FTL):c.103-4G>T
NM_000146.4(FTL):c.113T>C (p.Phe38Ser) rs2038445005
NM_000146.4(FTL):c.124G>A (p.Asp42Asn) rs11553257
NM_000146.4(FTL):c.12G>C (p.Gln4His) rs753168179
NM_000146.4(FTL):c.139G>C (p.Gly47Arg) rs930186818
NM_000146.4(FTL):c.139G>T (p.Gly47Cys) rs930186818
NM_000146.4(FTL):c.156C>T (p.Phe52=)
NM_000146.4(FTL):c.178C>T (p.Arg60Cys) rs2038446533
NM_000146.4(FTL):c.189C>A (p.Tyr63Ter)
NM_000146.4(FTL):c.190G>A (p.Glu64Lys) rs11553225
NM_000146.4(FTL):c.194G>A (p.Arg65His) rs1555797038
NM_000146.4(FTL):c.218G>T (p.Arg73Leu) rs2122432219
NM_000146.4(FTL):c.229G>A (p.Ala77Thr)
NM_000146.4(FTL):c.234C>T (p.Leu78=) rs559383814
NM_000146.4(FTL):c.242A>G (p.Asp81Gly)
NM_000146.4(FTL):c.247A>G (p.Lys83Glu) rs770196454
NM_000146.4(FTL):c.249+3A>G rs2038447850
NM_000146.4(FTL):c.249+4A>G
NM_000146.4(FTL):c.249+6T>C
NM_000146.4(FTL):c.249+8G>C
NM_000146.4(FTL):c.249+9T>G rs2122432498
NM_000146.4(FTL):c.250-12C>T
NM_000146.4(FTL):c.250-7T>C
NM_000146.4(FTL):c.251A>G (p.Lys84Arg)
NM_000146.4(FTL):c.253C>T (p.Pro85Ser)
NM_000146.4(FTL):c.256G>C (p.Ala86Pro) rs773293832
NM_000146.4(FTL):c.261A>C (p.Glu87Asp) rs762786833
NM_000146.4(FTL):c.263A>G (p.Asp88Gly) rs2122433970
NM_000146.4(FTL):c.271G>T (p.Gly91Cys)
NM_000146.4(FTL):c.285C>T (p.Asp95=)
NM_000146.4(FTL):c.288C>T (p.Ala96=)
NM_000146.4(FTL):c.311A>G (p.Glu104Gly) rs2038454487
NM_000146.4(FTL):c.336G>A (p.Leu112=)
NM_000146.4(FTL):c.375+15C>A
NM_000146.4(FTL):c.375+15C>T
NM_000146.4(FTL):c.375+8C>T
NM_000146.4(FTL):c.375T>C (p.His125=)
NM_000146.4(FTL):c.376-11T>C
NM_000146.4(FTL):c.376-15C>T
NM_000146.4(FTL):c.376C>G (p.Leu126Val) rs775308103
NM_000146.4(FTL):c.379T>C (p.Cys127Arg) rs2122435637
NM_000146.4(FTL):c.391G>A (p.Glu131Lys)
NM_000146.4(FTL):c.417G>A (p.Val139=)
NM_000146.4(FTL):c.42G>A (p.Glu14=) rs1600121247
NM_000146.4(FTL):c.460_461delinsCCA (p.Arg154fs)
NM_000146.4(FTL):c.460dup (p.Arg154fs) rs2122436083
NM_000146.4(FTL):c.463C>T (p.Leu155=)
NM_000146.4(FTL):c.469_484dup (p.Leu162fs) rs398124640
NM_000146.4(FTL):c.47C>A (p.Ala16Asp)
NM_000146.4(FTL):c.488G>A (p.Gly163Asp)
NM_000146.4(FTL):c.48C>G (p.Ala16=)
NM_000146.4(FTL):c.501C>T (p.Phe167=)
NM_000146.4(FTL):c.502G>T (p.Glu168Ter) rs768204975
NM_000146.4(FTL):c.515_516del (p.Leu172fs)
NM_000146.4(FTL):c.523G>T (p.Asp175Tyr) rs1422409524
NM_000146.4(FTL):c.71A>T (p.Tyr24Phe)
NM_000146.4(FTL):c.80C>A (p.Ala27Asp)

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