ClinVar Miner

List of variants in gene LIFR reported as pathogenic by Invitae

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Gene type:
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Total variants: 84
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HGVS dbSNP gnomAD frequency
NM_001127671.2(LIFR):c.28C>T (p.Arg10Ter) rs3729732 0.00003
NM_001127671.2(LIFR):c.1756G>T (p.Glu586Ter) rs754527323 0.00002
NM_001127671.2(LIFR):c.2074C>T (p.Arg692Ter) rs199775294 0.00002
NM_001127671.2(LIFR):c.1252C>T (p.Arg418Ter) rs765622323 0.00001
NM_001127671.2(LIFR):c.1789C>T (p.Arg597Ter) rs121912501 0.00001
NM_001127671.2(LIFR):c.2387_2388del (p.Leu796fs) rs907046324 0.00001
NM_001127671.2(LIFR):c.2464G>T (p.Glu822Ter) rs745842249 0.00001
NM_001127671.2(LIFR):c.2584C>T (p.Arg862Ter) rs1436005137 0.00001
NM_001127671.2(LIFR):c.325G>T (p.Glu109Ter) rs1746736672 0.00001
NM_001127671.2(LIFR):c.478_479del (p.Arg160fs) rs1242667371 0.00001
NC_000005.10:g.(?_38481585)_(38530657_?)del
NC_000005.9:g.(?_38484867)_(38486092_?)del
NM_001127671.2(LIFR):c.1042G>T (p.Glu348Ter) rs992038336
NM_001127671.2(LIFR):c.1107del (p.Ser368_Tyr369insTer)
NM_001127671.2(LIFR):c.1147A>T (p.Lys383Ter)
NM_001127671.2(LIFR):c.1174dup (p.Ser392fs)
NM_001127671.2(LIFR):c.1180C>T (p.Gln394Ter)
NM_001127671.2(LIFR):c.1231_1234del (p.Asn411fs)
NM_001127671.2(LIFR):c.1279dup (p.Ile427fs)
NM_001127671.2(LIFR):c.1290del (p.Val431fs) rs2112470883
NM_001127671.2(LIFR):c.1302del (p.His434fs)
NM_001127671.2(LIFR):c.132_135del (p.Ser44fs)
NM_001127671.2(LIFR):c.1337C>G (p.Ser446Ter)
NM_001127671.2(LIFR):c.1394dup (p.Leu465fs)
NM_001127671.2(LIFR):c.1418del (p.Ser473fs) rs2112462051
NM_001127671.2(LIFR):c.1429_1430insT (p.Gln477fs) rs765602627
NM_001127671.2(LIFR):c.1435C>T (p.Gln479Ter) rs1745315730
NM_001127671.2(LIFR):c.1469C>G (p.Ser490Ter) rs2112457636
NM_001127671.2(LIFR):c.1471del (p.Ser491fs) rs1474195407
NM_001127671.2(LIFR):c.1475_1482del (p.Tyr492fs) rs2112457520
NM_001127671.2(LIFR):c.1507dup (p.Thr503fs)
NM_001127671.2(LIFR):c.1510_1513del (p.Leu504fs)
NM_001127671.2(LIFR):c.1550G>A (p.Trp517Ter) rs1745248753
NM_001127671.2(LIFR):c.1566G>A (p.Trp522Ter)
NM_001127671.2(LIFR):c.1578del (p.Lys526fs) rs1554020702
NM_001127671.2(LIFR):c.1621dup (p.Thr541fs)
NM_001127671.2(LIFR):c.1622del (p.Thr541fs) rs2112443985
NM_001127671.2(LIFR):c.1626dup (p.Arg543fs) rs2112443938
NM_001127671.2(LIFR):c.1646del (p.Gly549fs)
NM_001127671.2(LIFR):c.1655dup (p.Leu552fs) rs1745065951
NM_001127671.2(LIFR):c.1687G>T (p.Glu563Ter) rs867776788
NM_001127671.2(LIFR):c.171_174del (p.Asn58fs) rs1561179853
NM_001127671.2(LIFR):c.173_176del (p.Asn58fs) rs1305269957
NM_001127671.2(LIFR):c.1744_1745del (p.Gln582fs)
NM_001127671.2(LIFR):c.1781_1782dup (p.Glu595fs) rs2112430367
NM_001127671.2(LIFR):c.1788dup (p.Arg597fs)
NM_001127671.2(LIFR):c.1844C>G (p.Ser615Ter)
NM_001127671.2(LIFR):c.1876del (p.Ile626fs)
NM_001127671.2(LIFR):c.1903C>T (p.Gln635Ter)
NM_001127671.2(LIFR):c.1903del (p.Gln635fs)
NM_001127671.2(LIFR):c.1947C>G (p.Tyr649Ter)
NM_001127671.2(LIFR):c.1983G>A (p.Trp661Ter) rs943532734
NM_001127671.2(LIFR):c.1994dup (p.Arg666fs)
NM_001127671.2(LIFR):c.2010C>A (p.Cys670Ter)
NM_001127671.2(LIFR):c.2013dup (p.Met672fs) rs1430793861
NM_001127671.2(LIFR):c.2036C>G (p.Ser679Ter) rs2112416850
NM_001127671.2(LIFR):c.2053_2054del (p.Val685fs) rs2112416721
NM_001127671.2(LIFR):c.2099dup (p.Leu701fs) rs778953608
NM_001127671.2(LIFR):c.2119dup (p.Gln707fs)
NM_001127671.2(LIFR):c.2266_2267dup (p.Leu756fs)
NM_001127671.2(LIFR):c.2268_2269dup (p.Arg757fs)
NM_001127671.2(LIFR):c.2286C>G (p.Tyr762Ter)
NM_001127671.2(LIFR):c.2326_2327dup (p.Leu776fs) rs1744436254
NM_001127671.2(LIFR):c.2327del (p.Val775_Leu776insTer) rs1744436254
NM_001127671.2(LIFR):c.2351_2357del (p.Lys784fs) rs2112377756
NM_001127671.2(LIFR):c.23T>A (p.Leu8Ter) rs1746954710
NM_001127671.2(LIFR):c.23del (p.Cys7_Leu8insTer) rs773896661
NM_001127671.2(LIFR):c.2434C>T (p.Arg812Ter) rs756675225
NM_001127671.2(LIFR):c.2464del (p.Glu822fs)
NM_001127671.2(LIFR):c.2509_2512del (p.Ile837fs) rs1435281238
NM_001127671.2(LIFR):c.396_397+2del
NM_001127671.2(LIFR):c.397del (p.Ser133fs)
NM_001127671.2(LIFR):c.407del (p.Pro136fs) rs1746518336
NM_001127671.2(LIFR):c.462C>A (p.Tyr154Ter)
NM_001127671.2(LIFR):c.470G>A (p.Trp157Ter)
NM_001127671.2(LIFR):c.542del (p.Ser181fs)
NM_001127671.2(LIFR):c.614G>A (p.Trp205Ter)
NM_001127671.2(LIFR):c.623del (p.Asp208fs) rs1745823859
NM_001127671.2(LIFR):c.653dup (p.Glu219fs) rs886042160
NM_001127671.2(LIFR):c.704G>A (p.Trp235Ter)
NM_001127671.2(LIFR):c.737G>A (p.Trp246Ter)
NM_001127671.2(LIFR):c.756dup (p.Lys253Ter) rs1745753552
NM_001127671.2(LIFR):c.883dup (p.Glu295fs)
NM_001127671.2(LIFR):c.912_915del (p.Ile304fs) rs1561159768

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