List of variants in gene DNAI1 reported as benign for ciliopathy

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: 28

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HGVS	dbSNP	gnomAD frequency
NM_012144.4(DNAI1):c.1489+130G>A	rs9657620	0.44707
NM_012144.4(DNAI1):c.902-125G>T	rs4878575	0.44633
NM_012144.4(DNAI1):c.1003G>A (p.Val335Ile)	rs11793196	0.20136
NM_012144.4(DNAI1):c.1019+42C>T	rs10814116	0.15511
NM_012144.4(DNAI1):c.1460T>G (p.Val487Gly)	rs11999454	0.02757
NM_012144.4(DNAI1):c.378A>G (p.Glu126=)	rs3818577	0.02063
NM_012144.4(DNAI1):c.297A>G (p.Gln99=)	rs77344166	0.01778
NM_012144.4(DNAI1):c.978A>C (p.Gln326His)	rs16931555	0.01063
NM_012144.4(DNAI1):c.1401+17G>A	rs138412741	0.00773
NM_012144.4(DNAI1):c.179C>T (p.Ala60Val)	rs16931549	0.00609
NM_012144.4(DNAI1):c.1604C>A (p.Thr535Asn)	rs76334696	0.00575
NM_012144.4(DNAI1):c.639G>A (p.Thr213=)	rs78865254	0.00348
NM_012144.4(DNAI1):c.2001+19T>A	rs144066349	0.00281
NM_012144.4(DNAI1):c.81+5del	rs200411544	0.00175
NM_012144.4(DNAI1):c.1902C>T (p.His634=)	rs139197229	0.00156
NM_012144.4(DNAI1):c.1878G>A (p.Ala626=)	rs146244319	0.00063
NM_012144.4(DNAI1):c.1923C>T (p.His641=)	rs145218397	0.00056
NM_012144.4(DNAI1):c.389-1G>C	rs200488444	0.00046
NM_012144.4(DNAI1):c.1401+7A>G	rs370745702	0.00019
NM_012144.4(DNAI1):c.862C>T (p.Arg288Trp)	rs202213517	0.00004
NM_012144.4(DNAI1):c.994C>A (p.Arg332Ser)	rs182015909	0.00003
NM_012144.4(DNAI1):c.81+20T>C	rs572257884	0.00001
NM_012144.4(DNAI1):c.1020-5del
NM_012144.4(DNAI1):c.1020-5dup
NM_012144.4(DNAI1):c.1312-13del
NM_012144.4(DNAI1):c.22G>T (p.Ala8Ser)	rs11547035
NM_012144.4(DNAI1):c.262-12del	rs572785591
NM_012144.4(DNAI1):c.49-16del

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