ClinVar Miner

List of variants in gene LIFR reported as pathogenic for not provided

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Total variants: 27
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HGVS dbSNP
NC_000005.10:g.(?_38481585)_(38530657_?)del
NM_001127671.2(LIFR):c.1042G>T (p.Glu348Ter)
NM_001127671.2(LIFR):c.1252C>T (p.Arg418Ter)
NM_001127671.2(LIFR):c.1290del (p.Val431fs)
NM_001127671.2(LIFR):c.1418del (p.Ser473fs)
NM_001127671.2(LIFR):c.1435C>T (p.Gln479Ter)
NM_001127671.2(LIFR):c.1469C>G (p.Ser490Ter)
NM_001127671.2(LIFR):c.1550G>A (p.Trp517Ter)
NM_001127671.2(LIFR):c.1626dup (p.Arg543fs)
NM_001127671.2(LIFR):c.1655dup (p.Leu552fs)
NM_001127671.2(LIFR):c.1789C>T (p.Arg597Ter) rs121912501
NM_001127671.2(LIFR):c.2036C>G (p.Ser679Ter)
NM_001127671.2(LIFR):c.2053_2054del (p.Val685fs)
NM_001127671.2(LIFR):c.2074C>T (p.Arg692Ter) rs199775294
NM_001127671.2(LIFR):c.2326_2327dup (p.Leu776fs)
NM_001127671.2(LIFR):c.2327del (p.Val775_Leu776insTer)
NM_001127671.2(LIFR):c.23del (p.Cys7_Leu8insTer)
NM_001127671.2(LIFR):c.2434C>T (p.Arg812Ter)
NM_001127671.2(LIFR):c.2509_2512del (p.Ile837fs)
NM_001127671.2(LIFR):c.254del (p.Asn85fs) rs886041545
NM_001127671.2(LIFR):c.2584C>T (p.Arg862Ter)
NM_001127671.2(LIFR):c.28C>T (p.Arg10Ter) rs3729732
NM_001127671.2(LIFR):c.407del (p.Pro136fs)
NM_001127671.2(LIFR):c.478_479del (p.Arg160fs) rs1242667371
NM_001127671.2(LIFR):c.623del (p.Asp208fs)
NM_001127671.2(LIFR):c.653dup (p.Glu219fs) rs886042160
NM_001127671.2(LIFR):c.756dup (p.Lys253Ter)

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