List of variants in gene IFT122 studied for connective tissue disorder

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 21

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HGVS	dbSNP	gnomAD frequency
NM_052989.3(IFT122):c.3265+7C>T	rs9836202	0.01370
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_052989.3(IFT122):c.1273C>T (p.Arg425Trp)	rs61744639	0.00451
NM_052989.3(IFT122):c.321A>G (p.Gln107=)	rs138793724	0.00299
NM_052989.3(IFT122):c.3129C>T (p.Arg1043=)	rs76881473	0.00206
NM_052989.3(IFT122):c.1103G>A (p.Ser368Asn)	rs150550701	0.00133
NM_052989.3(IFT122):c.2433C>T (p.Cys811=)	rs141626835	0.00103
NM_052989.3(IFT122):c.3487T>A (p.Phe1163Ile)	rs200606803	0.00057
NM_052989.3(IFT122):c.2315T>A (p.Ile772Asn)	rs371325633	0.00007
NM_052989.3(IFT122):c.3127C>A (p.Arg1043Ser)	rs555281580	0.00006
NM_052989.3(IFT122):c.2988-6C>T	rs749670705	0.00004
NM_052989.3(IFT122):c.3343G>T (p.Val1115Leu)	rs557159295	0.00004
NM_052989.3(IFT122):c.732C>T (p.Asp244=)	rs202074599	0.00003
NM_052989.3(IFT122):c.616A>G (p.Ile206Val)	rs777023612	0.00001
NM_052989.3(IFT122):c.1713G>T (p.Ser571=)	rs150174636
NM_052989.3(IFT122):c.2596A>G (p.Met866Val)	rs2081968039
NM_052989.3(IFT122):c.2803_2805del (p.Lys935del)	rs746556063
NM_052989.3(IFT122):c.3051C>T (p.His1017=)	rs538635135
NM_052989.3(IFT122):c.536T>G (p.Ile179Arg)	rs769527595

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