List of variants in gene DNAI2 reported as likely pathogenic for Primary ciliary dyskinesia 9

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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: 25

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HGVS	dbSNP	gnomAD frequency
NM_023036.6(DNAI2):c.1723-1G>T	rs201909971	0.00020
NM_023036.6(DNAI2):c.1304G>A (p.Trp435Ter)	rs752924362	0.00008
NM_023036.6(DNAI2):c.1348-1G>A	rs745755917	0.00002
NM_023036.6(DNAI2):c.610+1G>A	rs758109864	0.00002
NM_023036.6(DNAI2):c.1414C>T (p.Gln472Ter)	rs756868374	0.00001
NM_023036.6(DNAI2):c.1429dup (p.Thr477fs)	rs1567876609	0.00001
NM_023036.6(DNAI2):c.421G>T (p.Glu141Ter)	rs772133192	0.00001
NM_023036.6(DNAI2):c.718C>T (p.Gln240Ter)	rs780116486	0.00001
NM_023036.6(DNAI2):c.740G>A (p.Arg247Gln)	rs755060592	0.00001
NM_023036.6(DNAI2):c.883C>T (p.Arg295Ter)	rs200708870	0.00001
NM_023036.6(DNAI2):c.1173G>A (p.Trp391Ter)	rs1261918364
NM_023036.6(DNAI2):c.1215C>A (p.Tyr405Ter)
NM_023036.6(DNAI2):c.1326C>A (p.Cys442Ter)	rs537816710
NM_023036.6(DNAI2):c.1422del (p.Thr475fs)	rs1240172375
NM_023036.6(DNAI2):c.1631_1632insAGCG (p.Val545fs)	rs2509774595
NM_023036.6(DNAI2):c.1723-1G>A
NM_023036.6(DNAI2):c.219dup (p.Val74fs)
NM_023036.6(DNAI2):c.231dup (p.Glu78fs)	rs2509692646
NM_023036.6(DNAI2):c.246_253delinsTCC (p.Lys83fs)
NM_023036.6(DNAI2):c.250del (p.Asp84fs)	rs769251936
NM_023036.6(DNAI2):c.341_344del (p.Gly114fs)	rs2143904159
NM_023036.6(DNAI2):c.658del (p.Leu219_Val220insTer)
NM_023036.6(DNAI2):c.674del (p.Asn225fs)	rs1598293348
NM_023036.6(DNAI2):c.87dup (p.Asp30fs)	rs2509681813
NM_023036.6(DNAI2):c.987+1G>A	rs766662586

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