List of variants in gene IFT43 reported as pathogenic for not provided

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_001102564.3(IFT43):c.328C>T (p.Gln110Ter)	rs201794999	0.00007
NM_001102564.3(IFT43):c.296-5612_296-5611insCTCAC	rs1242125183	0.00002
NM_001102564.3(IFT43):c.1A>C (p.Met1Leu)	rs387907107	0.00001
NM_001102564.3(IFT43):c.2T>A (p.Met1Lys)	rs769724508	0.00001
NM_001102564.3(IFT43):c.73C>T (p.Arg25Ter)	rs780404339	0.00001
NM_001102564.3(IFT43):c.136_137del (p.Leu46fs)
NM_001102564.3(IFT43):c.174_175delinsAT (p.Cys58_Arg59delinsTer)	rs2139957076
NM_001102564.3(IFT43):c.1A>G (p.Met1Val)	rs387907107
NM_001102564.3(IFT43):c.25G>T (p.Glu9Ter)	rs751183646
NM_001102564.3(IFT43):c.296-5613del
NM_001102564.3(IFT43):c.296-5638_296-5637del
NM_001102564.3(IFT43):c.296-5646dup	rs2140090204
NM_001102564.3(IFT43):c.296-5656C>A
NM_001102564.3(IFT43):c.296-5686_296-5685del
NM_001102564.3(IFT43):c.341_342del (p.Phe114fs)
NM_001102564.3(IFT43):c.342del (p.Phe114fs)	rs748454643

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