List of variants reported as benign for Achondrogenesis, type IB; Atelosteogenesis type II; Multiple epiphyseal dysplasia type 4; Diastrophic dysplasia by Invitae

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Total variants: 12

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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.2065A>T (p.Thr689Ser)	rs3776070	0.19906
NM_000112.4(SLC26A2):c.1474C>T (p.Arg492Trp)	rs78676079	0.01642
NM_000112.4(SLC26A2):c.2220A>G (p.Ter740=)	rs61732052	0.01353
NM_000112.4(SLC26A2):c.655A>G (p.Ile219Val)	rs35919114	0.00795
NM_000112.4(SLC26A2):c.987T>C (p.Leu329=)	rs116302615	0.00246
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

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