ClinVar Miner

List of variants studied for bent bone dysplasia by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

Included ClinVar conditions (16):
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ClinVar version:
Total variants: 36
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HGVS dbSNP gnomAD frequency
NM_001127671.2(LIFR):c.143-60A>G rs62355821 0.03946
NM_001127671.2(LIFR):c.991+80G>T rs6451387 0.03281
NM_001127671.2(LIFR):c.1886-18C>T rs3729743 0.01415
NM_001127671.2(LIFR):c.2066-74T>G rs113874922 0.01269
NM_001127671.2(LIFR):c.1937C>A (p.Thr646Asn) rs79040751 0.00875
NM_001127671.2(LIFR):c.1899A>G (p.Ile633Met) rs2303743 0.00702
NM_001127671.2(LIFR):c.1991C>T (p.Ser664Leu) rs3729744 0.00590
NC_000005.10:g.38594967T>A rs186528221 0.00479
NM_001127671.2(LIFR):c.2766T>C (p.Asp922=) rs61027880 0.00460
NM_001127671.2(LIFR):c.2591+17T>C rs73077453 0.00459
NM_001127671.2(LIFR):c.954C>T (p.Thr318=) rs61748202 0.00421
NM_001127671.2(LIFR):c.789A>G (p.Val263=) rs141925289 0.00321
NM_001127671.2(LIFR):c.2498-7G>A rs113078097 0.00306
NM_001127671.2(LIFR):c.2447A>G (p.Asp816Gly) rs74856317 0.00245
NM_001127671.2(LIFR):c.364A>G (p.Thr122Ala) rs145163157 0.00131
NM_001127671.2(LIFR):c.2302A>G (p.Arg768Gly) rs139848756 0.00107
NM_001127671.2(LIFR):c.553G>A (p.Val185Ile) rs140538535 0.00097
NM_001127671.2(LIFR):c.2934G>A (p.Gln978=) rs148354076 0.00082
NM_001127671.2(LIFR):c.247A>G (p.Ile83Val) rs61751710 0.00068
NM_001127671.2(LIFR):c.2578C>T (p.Arg860Trp) rs146205670 0.00066
NM_001127671.2(LIFR):c.2410A>G (p.Lys804Glu) rs148664975 0.00056
NM_001127671.2(LIFR):c.3087A>G (p.Arg1029=) rs138418444 0.00055
NM_001127671.2(LIFR):c.562-12G>A rs551186831 0.00014
NM_001127671.2(LIFR):c.147T>G (p.Ala49=) rs879807300 0.00005
NM_001127671.2(LIFR):c.2670+6C>G rs898718526 0.00003
NM_001127671.2(LIFR):c.2807G>A (p.Arg936His) rs781371324 0.00002
NM_001127671.2(LIFR):c.2910A>G (p.Ala970=) rs1258728953 0.00001
NM_001127671.2(LIFR):c.406C>G (p.Pro136Ala) rs761024368 0.00001
NM_001127671.2(LIFR):c.143-37GT[11] rs10637374
NM_001127671.2(LIFR):c.143-37GT[13] rs10637374
NM_001127671.2(LIFR):c.143-37GT[16] rs10637374
NM_001127671.2(LIFR):c.2173A>G (p.Ile725Val)
NM_001127671.2(LIFR):c.3288C>A (p.Asn1096Lys) rs3729751
NM_001127671.2(LIFR):c.3288C>T (p.Asn1096=) rs3729751
NM_001127671.2(LIFR):c.33A>G (p.Pro11=) rs754559989
NM_001127671.2(LIFR):c.397+17_397+20del rs139143276

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