ClinVar Miner

List of variants in gene IFT172 reported by Ambry Genetics

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Gene type:
ClinVar version:
Total variants: 53
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HGVS dbSNP gnomAD frequency
NM_015662.3(IFT172):c.3005T>A (p.Leu1002His) rs369466577 0.00031
NM_015662.3(IFT172):c.886C>T (p.Arg296Trp) rs145541911 0.00030
NM_015662.3(IFT172):c.1313C>T (p.Pro438Leu) rs367930028 0.00026
NM_015662.3(IFT172):c.831G>C (p.Glu277Asp) rs150938554 0.00025
NM_015662.3(IFT172):c.2350C>T (p.Arg784Trp) rs137906877 0.00021
NM_015662.3(IFT172):c.449G>C (p.Gly150Ala) rs368343162 0.00012
NM_015662.3(IFT172):c.4210G>A (p.Gly1404Ser) rs763238244 0.00009
NM_015662.3(IFT172):c.4408G>A (p.Gly1470Arg) rs146047876 0.00006
NM_015662.3(IFT172):c.877G>A (p.Ala293Thr) rs370903625 0.00006
NM_015662.3(IFT172):c.2351G>A (p.Arg784Gln) rs370097039 0.00005
NM_015662.3(IFT172):c.4492G>A (p.Glu1498Lys) rs557292146 0.00004
NM_015662.3(IFT172):c.926G>C (p.Gly309Ala) rs749612277 0.00004
NM_015662.3(IFT172):c.972C>G (p.Asn324Lys) rs370874046 0.00004
NM_015662.3(IFT172):c.1432A>G (p.Asn478Asp) rs374979653 0.00003
NM_015662.3(IFT172):c.2873A>C (p.His958Pro) rs748358110 0.00003
NM_015662.3(IFT172):c.4370G>A (p.Gly1457Asp) rs142312837 0.00003
NM_015662.3(IFT172):c.707G>A (p.Arg236His) rs768290728 0.00003
NM_015662.3(IFT172):c.3146A>C (p.Glu1049Ala) rs138139922 0.00002
NM_015662.3(IFT172):c.3197G>A (p.Arg1066Gln) rs759282959 0.00002
NM_015662.3(IFT172):c.650G>A (p.Arg217Gln) rs777862424 0.00002
NM_015662.3(IFT172):c.673G>C (p.Glu225Gln) rs767999703 0.00002
NM_015662.3(IFT172):c.1444G>A (p.Val482Ile) rs771104054 0.00001
NM_015662.3(IFT172):c.1628G>A (p.Arg543Gln) rs755926439 0.00001
NM_015662.3(IFT172):c.178A>G (p.Met60Val) rs758377122 0.00001
NM_015662.3(IFT172):c.1880T>C (p.Met627Thr) rs147288623 0.00001
NM_015662.3(IFT172):c.3178G>A (p.Ala1060Thr) rs560379580 0.00001
NM_015662.3(IFT172):c.3368A>G (p.Asn1123Ser) rs146615936 0.00001
NM_015662.3(IFT172):c.338G>A (p.Ser113Asn) rs778306652 0.00001
NM_015662.3(IFT172):c.4199T>C (p.Leu1400Pro) rs371612970 0.00001
NM_015662.3(IFT172):c.4351A>G (p.Thr1451Ala) rs761701917 0.00001
NC_000002.12:g.27484267del
NM_015662.3(IFT172):c.1333A>C (p.Ile445Leu)
NM_015662.3(IFT172):c.1455G>C (p.Glu485Asp)
NM_015662.3(IFT172):c.1514G>A (p.Arg505Gln)
NM_015662.3(IFT172):c.1675A>G (p.Thr559Ala)
NM_015662.3(IFT172):c.1698T>A (p.Asp566Glu) rs765731241
NM_015662.3(IFT172):c.1766C>A (p.Ala589Asp)
NM_015662.3(IFT172):c.203T>C (p.Met68Thr)
NM_015662.3(IFT172):c.204G>A (p.Met68Ile)
NM_015662.3(IFT172):c.2840T>G (p.Met947Arg)
NM_015662.3(IFT172):c.2884A>G (p.Met962Val) rs541501287
NM_015662.3(IFT172):c.2976-2A>T
NM_015662.3(IFT172):c.3176A>G (p.Lys1059Arg)
NM_015662.3(IFT172):c.3988C>T (p.Arg1330Cys)
NM_015662.3(IFT172):c.4050+6T>C
NM_015662.3(IFT172):c.4424C>G (p.Pro1475Arg)
NM_015662.3(IFT172):c.4469G>C (p.Ser1490Thr)
NM_015662.3(IFT172):c.4585GAG[1] (p.Glu1530del)
NM_015662.3(IFT172):c.4648G>T (p.Val1550Phe)
NM_015662.3(IFT172):c.887G>A (p.Arg296Gln)
NM_015662.3(IFT172):c.926G>A (p.Gly309Glu) rs749612277
NM_015662.3(IFT172):c.941A>T (p.Asp314Val)
NM_015662.3(IFT172):c.995G>C (p.Gly332Ala)

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