List of variants in gene IFT122 reported as benign for bone development disease

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 42

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HGVS	dbSNP	gnomAD frequency
NM_052989.3(IFT122):c.740+15G>A	rs56379561	0.13063
NM_052989.3(IFT122):c.1654-12C>T	rs112066509	0.12634
NM_052989.3(IFT122):c.1147+19C>T	rs2301570	0.10129
NM_052985.3(IFT122):c.-206A>G	rs3138334	0.02635
NM_052989.3(IFT122):c.109-15T>C	rs114298924	0.02307
NM_052989.3(IFT122):c.3265+7C>T	rs9836202	0.01370
NM_052989.3(IFT122):c.1943A>C (p.Glu648Ala)	rs144397126	0.01035
NM_052989.3(IFT122):c.1854C>T (p.Ser618=)	rs146874343	0.00981
NM_052989.3(IFT122):c.2682G>A (p.Ala894=)	rs61741773	0.00905
NM_052989.3(IFT122):c.2415C>T (p.Arg805=)	rs61744218	0.00860
NM_052985.3(IFT122):c.-210C>A	rs148987764	0.00690
NM_052989.3(IFT122):c.3303G>T (p.Gly1101=)	rs111668739	0.00548
NM_052989.3(IFT122):c.1239G>A (p.Glu413=)	rs111717774	0.00480
NM_052989.3(IFT122):c.1273C>T (p.Arg425Trp)	rs61744639	0.00451
NM_052989.3(IFT122):c.2349C>A (p.Ile783=)	rs114357746	0.00442
NM_052989.3(IFT122):c.1993-8C>T	rs531091599	0.00439
NM_052989.3(IFT122):c.1113C>T (p.Asp371=)	rs139319087	0.00429
NM_052989.3(IFT122):c.1908T>C (p.Ile636=)	rs139722192	0.00334
NM_052989.3(IFT122):c.321A>G (p.Gln107=)	rs138793724	0.00299
NM_052989.3(IFT122):c.3432C>T (p.Ile1144=)	rs149884307	0.00277
NM_052989.3(IFT122):c.2294A>C (p.Lys765Thr)	rs146026277	0.00212
NM_052989.3(IFT122):c.3129C>T (p.Arg1043=)	rs76881473	0.00206
NM_052989.3(IFT122):c.273-331C>A	rs116196975	0.00187
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.2433C>T (p.Cys811=)	rs141626835	0.00103
NM_052989.3(IFT122):c.825G>T (p.Lys275Asn)	rs117517364	0.00095
NM_052989.3(IFT122):c.3392-20C>T	rs200747264	0.00058
NM_052989.3(IFT122):c.2625C>T (p.Asn875=)	rs76572254	0.00036
NM_052989.3(IFT122):c.1533G>A (p.Leu511=)	rs183614690	0.00021
NM_052989.3(IFT122):c.1009-14C>T	rs202155515	0.00016
NM_052989.3(IFT122):c.416+12T>C	rs141969308	0.00011
NM_052989.3(IFT122):c.229G>A (p.Val77Ile)	rs369525803	0.00010
NM_052989.3(IFT122):c.3570G>T (p.Leu1190=)	rs146778076	0.00009
NM_052989.3(IFT122):c.2375+13C>T	rs749785449	0.00007
NM_052989.3(IFT122):c.1992+7A>G	rs757823317	0.00006
NM_052989.3(IFT122):c.108+10dup
NM_052989.3(IFT122):c.1713G>T (p.Ser571=)	rs150174636
NM_052989.3(IFT122):c.1836C>T (p.Ala612=)
NM_052989.3(IFT122):c.1993-7G>C	rs2285354
NM_052989.3(IFT122):c.273-266G>A
NM_052989.3(IFT122):c.3051C>T (p.His1017=)	rs538635135

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