ClinVar Miner

List of variants in gene IFT122 reported as likely benign by Fulgent Genetics, Fulgent Genetics

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Gene type:
ClinVar version:
Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_052989.3(IFT122):c.3432C>T (p.Ile1144=) rs149884307 0.00277
NM_052989.3(IFT122):c.1103G>A (p.Ser368Asn) rs150550701 0.00133
NM_052989.3(IFT122):c.3462G>A (p.Leu1154=) rs150692598 0.00125
NM_052989.3(IFT122):c.3266-19C>T rs201753855 0.00040
NM_052989.3(IFT122):c.2625C>T (p.Asn875=) rs76572254 0.00036
NM_052989.3(IFT122):c.417-16T>C rs192128912 0.00029
NM_052989.3(IFT122):c.1380C>T (p.Ser460=) rs142641511 0.00021
NM_052989.3(IFT122):c.531G>A (p.Ser177=) rs150496357 0.00021
NM_052989.3(IFT122):c.3027C>T (p.Leu1009=) rs373152133 0.00015
NM_052989.3(IFT122):c.2715C>T (p.Ala905=) rs143748879 0.00014
NM_052989.3(IFT122):c.2987+15A>G rs373111458 0.00011
NM_052989.3(IFT122):c.416+12T>C rs141969308 0.00011
NM_052989.3(IFT122):c.1489-16G>A rs576753615 0.00007
NM_052989.3(IFT122):c.2375+13C>T rs749785449 0.00007
NM_052989.3(IFT122):c.3594G>T (p.Leu1198=) rs775936679 0.00005
NM_052989.3(IFT122):c.2895G>A (p.Pro965=) rs771092154 0.00004
NM_052989.3(IFT122):c.2904C>T (p.Val968=) rs140575442 0.00004
NM_052989.3(IFT122):c.1629C>T (p.Ile543=) rs372545849 0.00002
NM_052989.3(IFT122):c.2652G>A (p.Ala884=) rs201147770 0.00002
NM_052989.3(IFT122):c.3504G>C (p.Val1168=) rs368239028 0.00002
NM_052989.3(IFT122):c.42-17C>G rs752213678 0.00002

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