List of variants in gene SLC26A2 reported as benign for atelosteogenesis

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: 33

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HGVS	dbSNP	gnomAD frequency
NM_000112.4(SLC26A2):c.1721T>C (p.Ile574Thr)	rs30832	0.99306
NM_000112.4(SLC26A2):c.*3404C>T	rs30833	0.98883
NM_000112.4(SLC26A2):c.*1024T>G	rs8073	0.21816
NM_000112.4(SLC26A2):c.*5553G>A	rs10476926	0.20874
NM_000112.4(SLC26A2):c.2065A>T (p.Thr689Ser)	rs3776070	0.19906
NM_000112.4(SLC26A2):c.*5338T>C	rs17711997	0.14477
NM_000112.4(SLC26A2):c.*4982A>G	rs74589369	0.04589
NM_000112.4(SLC26A2):c.*3670G>A	rs76262875	0.04581
NM_000112.4(SLC26A2):c.*2226C>T	rs7722454	0.04260
NM_000112.4(SLC26A2):c.*4460G>T	rs111742763	0.03131
NM_000112.4(SLC26A2):c.*590C>T	rs1046710	0.03077
NM_000112.4(SLC26A2):c.*1631C>T	rs7717795	0.03068
NM_000112.4(SLC26A2):c.1474C>T (p.Arg492Trp)	rs78676079	0.01642
NM_000112.4(SLC26A2):c.*2617C>T	rs188922059	0.01558
NM_000112.4(SLC26A2):c.*4391G>T	rs150508217	0.01531
NM_000112.4(SLC26A2):c.2220A>G (p.Ter740=)	rs61732052	0.01353
NM_000112.4(SLC26A2):c.*3466C>G	rs6888879	0.01309
NM_000112.4(SLC26A2):c.*2612C>T	rs28451300	0.01303
NM_000112.4(SLC26A2):c.*394T>A	rs140641532	0.00987
NM_000112.4(SLC26A2):c.*938T>C	rs150188068	0.00983
NM_000112.4(SLC26A2):c.*4930C>T	rs79521091	0.00981
NM_000112.4(SLC26A2):c.655A>G (p.Ile219Val)	rs35919114	0.00795
NM_000112.4(SLC26A2):c.*1552G>C	rs143723917	0.00675
NM_000112.4(SLC26A2):c.*2780G>A	rs9324635	0.00587
NM_000112.4(SLC26A2):c.987T>C (p.Leu329=)	rs116302615	0.00246
NM_000112.4(SLC26A2):c.*600G>T	rs143723255	0.00148
NM_000112.4(SLC26A2):c.468C>T (p.Thr156=)	rs111788154	0.00110
NM_000112.4(SLC26A2):c.229A>C (p.Asn77His)	rs76784312	0.00025
NM_000112.4(SLC26A2):c.2046G>A (p.Leu682=)	rs116657359	0.00022
NM_000112.4(SLC26A2):c.1410A>G (p.Val470=)	rs115777661	0.00017
NM_000112.4(SLC26A2):c.1761C>T (p.Leu587=)	rs745590895	0.00009
NM_000112.4(SLC26A2):c.1647A>G (p.Pro549=)	rs200694484	0.00001
NM_000112.4(SLC26A2):c.*4469del	rs397883627

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