ClinVar Miner

List of variants in gene LIFR reported as likely pathogenic

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Total variants: 39
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HGVS dbSNP gnomAD frequency
NM_001127671.2(LIFR):c.2074C>T (p.Arg692Ter) rs199775294 0.00002
NM_001127671.2(LIFR):c.2444C>G (p.Thr815Arg) rs1744257909 0.00001
NM_001127671.2(LIFR):c.397+1G>T rs1342555870 0.00001
NM_001127671.2(LIFR):c.478_479del (p.Arg160fs) rs1242667371 0.00001
NM_001127671.2(LIFR):c.1105dup (p.Tyr369fs)
NM_001127671.2(LIFR):c.1121+1G>A rs786205647
NM_001127671.2(LIFR):c.1136_1137del (p.Tyr379fs)
NM_001127671.2(LIFR):c.1291+2T>C
NM_001127671.2(LIFR):c.142+2T>A
NM_001127671.2(LIFR):c.143-1G>T rs2112564806
NM_001127671.2(LIFR):c.143-2del rs2112564811
NM_001127671.2(LIFR):c.1438-1G>A
NM_001127671.2(LIFR):c.1438-2A>G
NM_001127671.2(LIFR):c.1578del (p.Lys526fs) rs1554020702
NM_001127671.2(LIFR):c.1601-1G>A rs2112444143
NM_001127671.2(LIFR):c.1671+1G>T
NM_001127671.2(LIFR):c.1672-2A>G
NM_001127671.2(LIFR):c.1865C>T (p.Ala622Val)
NM_001127671.2(LIFR):c.210del (p.Ser71fs) rs2112564371
NM_001127671.2(LIFR):c.2168-1G>A rs2112393633
NM_001127671.2(LIFR):c.2335+1G>A rs772217684
NM_001127671.2(LIFR):c.2336G>T (p.Gly779Val) rs1404206532
NM_001127671.2(LIFR):c.23del (p.Cys7_Leu8insTer) rs773896661
NM_001127671.2(LIFR):c.2497+1G>A
NM_001127671.2(LIFR):c.2497+1G>T rs758055364
NM_001127671.2(LIFR):c.254del (p.Asn85fs) rs886041545
NM_001127671.2(LIFR):c.258-1G>T
NM_001127671.2(LIFR):c.258-2A>C rs201621131
NM_001127671.2(LIFR):c.2591+1G>A
NM_001127671.2(LIFR):c.398-2_398-1del
NM_001127671.2(LIFR):c.561+1G>T
NM_001127671.2(LIFR):c.561+1del
NM_001127671.2(LIFR):c.562-2A>C rs1265303209
NM_001127671.2(LIFR):c.736+1G>C rs2112498297
NM_001127671.2(LIFR):c.737-1G>T rs899895056
NM_001127671.2(LIFR):c.737-2A>G
NM_001127671.2(LIFR):c.912_915del (p.Ile304fs) rs1561159768
NM_001127671.2(LIFR):c.991+1G>A rs2112491568
NM_001127671.2(LIFR):c.991+2T>C rs2112491551

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