ClinVar Miner

List of variants in gene combination IFT80, TRIM59-IFT80 reported as benign for bone disorder

Included ClinVar conditions (1346):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 34
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HGVS dbSNP gnomAD frequency
NM_020800.3(IFT80):c.1756A>T (p.Thr586Ser) rs6778728 0.31629
NM_020800.3(IFT80):c.1926+13T>C rs3737214 0.17528
NM_020800.3(IFT80):c.*42G>A rs16831149 0.16470
NM_020800.3(IFT80):c.462G>A (p.Ala154=) rs34182424 0.02371
NM_020800.3(IFT80):c.-40C>T rs79756374 0.01997
NM_020800.3(IFT80):c.1076C>T (p.Ser359Phe) rs144099135 0.00760
NM_020800.3(IFT80):c.2139T>C (p.Asp713=) rs16831157 0.00485
NM_020800.3(IFT80):c.371-10C>A rs188321058 0.00420
NM_020800.3(IFT80):c.*1204G>A rs144132950 0.00376
NM_020800.3(IFT80):c.1076+9C>G rs139408398 0.00283
NM_020800.3(IFT80):c.777+20A>G rs192387448 0.00217
NM_020800.3(IFT80):c.897G>A (p.Val299=) rs145776235 0.00156
NM_020800.3(IFT80):c.550-18T>C rs150600821 0.00128
NM_020800.3(IFT80):c.60G>A (p.Val20=) rs201088893 0.00051
NM_020800.3(IFT80):c.937A>G (p.Thr313Ala) rs146065418 0.00048
NM_020800.3(IFT80):c.933A>G (p.Thr311=) rs138798955 0.00020
NM_020800.3(IFT80):c.879C>T (p.Val293=) rs143660757 0.00011
NM_020800.3(IFT80):c.549+16T>C rs554487138 0.00003
NM_020800.3(IFT80):c.13A>C (p.Ile5Leu) rs184680258 0.00001
NM_020800.3(IFT80):c.1499A>G (p.Glu500Gly) rs554335278 0.00001
NM_020800.3(IFT80):c.259+18A>G rs555123804 0.00001
NM_020800.3(IFT80):c.1381-14dup rs762163693
NM_020800.3(IFT80):c.1665-7del rs769406658
NM_020800.3(IFT80):c.1665-7dup rs769406658
NM_020800.3(IFT80):c.1755A>C (p.Ile585=)
NM_020800.3(IFT80):c.2224-10del rs58665245
NM_020800.3(IFT80):c.2224-10dup rs58665245
NM_020800.3(IFT80):c.2224-19_2224-18dup rs58665245
NM_020800.3(IFT80):c.282G>A (p.Lys94=) rs548358266
NM_020800.3(IFT80):c.371-11del rs34613811
NM_020800.3(IFT80):c.371-11dup
NM_020800.3(IFT80):c.440-18del rs199675485
NM_020800.3(IFT80):c.440-27dup rs199675485
NM_020800.3(IFT80):c.958-8T>C rs752430715

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