List of variants in gene SLC26A2 reported as likely pathogenic 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: 42

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HGVS	dbSNP	gnomAD frequency
NM_000112.4(SLC26A2):c.1957T>A (p.Cys653Ser)	rs104893924	0.00014
NM_000112.4(SLC26A2):c.700-1G>C	rs200963884	0.00005
NM_000112.4(SLC26A2):c.1982del (p.Thr661fs)	rs762137330	0.00001
NM_000112.4(SLC26A2):c.776G>T (p.Gly259Val)	rs769319202	0.00001
NM_000112.4(SLC26A2):c.1011TGT[3] (p.Val341del)	rs121908077
NM_000112.4(SLC26A2):c.1060G>T (p.Glu354Ter)	rs1057517532
NM_000112.4(SLC26A2):c.1157C>G (p.Ala386Gly)	rs386833493
NM_000112.4(SLC26A2):c.1273A>G (p.Asn425Asp)	rs104893920
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.1311dup (p.Ala438fs)	rs1057517471
NM_000112.4(SLC26A2):c.1338del (p.Glu447fs)	rs1057517502
NM_000112.4(SLC26A2):c.1382C>T (p.Ala461Val)	rs2113698650
NM_000112.4(SLC26A2):c.1394del (p.Leu465fs)	rs386833495
NM_000112.4(SLC26A2):c.1513T>C (p.Trp505Arg)	rs2113698845
NM_000112.4(SLC26A2):c.1537_1541dup (p.Ile514fs)	rs1057517511
NM_000112.4(SLC26A2):c.1544G>A (p.Trp515Ter)	rs2113698870
NM_000112.4(SLC26A2):c.1649del (p.Lys550fs)	rs1057517482
NM_000112.4(SLC26A2):c.1806_1809del (p.Thr603fs)	rs1057517530
NM_000112.4(SLC26A2):c.1817del (p.Pro606fs)	rs1554095374
NM_000112.4(SLC26A2):c.185C>G (p.Ser62Ter)	rs1057517523
NM_000112.4(SLC26A2):c.188del (p.Asp63fs)	rs1057517496
NM_000112.4(SLC26A2):c.1955_1958del (p.Asp652fs)	rs1057517474
NM_000112.4(SLC26A2):c.1957T>G (p.Cys653Gly)
NM_000112.4(SLC26A2):c.1958G>A (p.Cys653Tyr)	rs1179580843
NM_000112.4(SLC26A2):c.1976del (p.Phe658_Leu659insTer)	rs386833499
NM_000112.4(SLC26A2):c.1998_1999del (p.Leu667fs)	rs1057517513
NM_000112.4(SLC26A2):c.2065_2066del (p.Thr689fs)	rs773490671
NM_000112.4(SLC26A2):c.207del (p.Phe69fs)	rs1057517462
NM_000112.4(SLC26A2):c.2105dup (p.Glu703fs)	rs1581232733
NM_000112.4(SLC26A2):c.2143G>A (p.Ala715Thr)	rs759438521
NM_000112.4(SLC26A2):c.239_243dup (p.Pro82fs)	rs1057517504
NM_000112.4(SLC26A2):c.391del (p.Leu131fs)	rs786200881
NM_000112.4(SLC26A2):c.438dup (p.Ala147fs)	rs769859976
NM_000112.4(SLC26A2):c.451del (p.Tyr151fs)	rs786204675
NM_000112.4(SLC26A2):c.485_486del (p.Val162fs)	rs763198695
NM_000112.4(SLC26A2):c.541C>T (p.Gln181Ter)	rs1057517483
NM_000112.4(SLC26A2):c.736_739del (p.Val246fs)	rs1057517524
NM_000112.4(SLC26A2):c.746C>G (p.Ser249Ter)	rs1057517514
NM_000112.4(SLC26A2):c.918del (p.Thr307fs)	rs1057517526
NM_000112.4(SLC26A2):c.922del (p.Ser308fs)	rs1057517495
NM_000112.4(SLC26A2):c.931T>C (p.Cys311Arg)	rs377432261

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