List of variants in gene FTL studied for Neuroferritinopathy

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: 28

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HGVS	dbSNP	gnomAD frequency
NM_000146.4(FTL):c.522C>T (p.His174=)	rs73046709	0.00184
NM_000146.4(FTL):c.*24C>T	rs368083362	0.00037
NM_000146.4(FTL):c.169G>A (p.Glu57Lys)	rs201241191	0.00016
NM_000146.4(FTL):c.250-6A>G	rs370216913	0.00009
NM_000146.4(FTL):c.*8C>T	rs373178636	0.00005
NM_000146.4(FTL):c.474G>A (p.Pro158=)	rs758414077	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.286G>A (p.Ala96Thr)	rs104894685	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_000146.4(FTL):c.439_442dup (p.His148fs)	rs2122435944
NM_000146.4(FTL):c.442dup (p.His148fs)	rs2122435950
NM_000146.4(FTL):c.458dup (p.His153fs)	rs587776840
NM_000146.4(FTL):c.460dup (p.Arg154fs)	rs2122436083
NM_000146.4(FTL):c.469_484dup (p.Leu162fs)	rs398124640
NM_000146.4(FTL):c.485_489dup (p.Glu164fs)	rs2122436225
NM_000146.4(FTL):c.498_499dup (p.Phe167fs)	rs1114167274

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