List of variants reported as likely pathogenic for atelosteogenesis by Labcorp Genetics (formerly Invitae), Labcorp

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Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_000112.4(SLC26A2):c.776G>T (p.Gly259Val)	rs769319202	0.00001
NM_000112.4(SLC26A2):c.1157C>G (p.Ala386Gly)	rs386833493
NM_000112.4(SLC26A2):c.1277T>A (p.Ile426Asn)	rs2113698521
NM_000112.4(SLC26A2):c.1277T>C (p.Ile426Thr)	rs2113698521
NM_000112.4(SLC26A2):c.1513T>C (p.Trp505Arg)	rs2113698845
NM_000112.4(SLC26A2):c.1544G>A (p.Trp515Ter)	rs2113698870
NM_000112.4(SLC26A2):c.1957T>G (p.Cys653Gly)
NM_000112.4(SLC26A2):c.1958G>A (p.Cys653Tyr)	rs1179580843
NM_000112.4(SLC26A2):c.2065_2066del (p.Thr689fs)	rs773490671
NM_000112.4(SLC26A2):c.2105dup (p.Glu703fs)	rs1581232733
NM_000112.4(SLC26A2):c.2143G>A (p.Ala715Thr)	rs759438521
NM_000112.4(SLC26A2):c.931T>C (p.Cys311Arg)	rs377432261

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