List of variants in gene SLC26A2 reported as likely pathogenic for Multiple epiphyseal dysplasia type 4

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: 49

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HGVS	dbSNP	gnomAD frequency
NM_000112.4(SLC26A2):c.835C>T (p.Arg279Trp)	rs104893915	0.00106
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.1650del (p.Ser551fs)	rs386833497	0.00003
NM_000112.4(SLC26A2):c.2033G>T (p.Gly678Val)	rs104893916	0.00002
NM_000112.4(SLC26A2):c.1982del (p.Thr661fs)	rs762137330	0.00001
NM_000112.4(SLC26A2):c.1060G>T (p.Glu354Ter)	rs1057517532
NM_000112.4(SLC26A2):c.1311dup (p.Ala438fs)	rs1057517471
NM_000112.4(SLC26A2):c.1338del (p.Glu447fs)	rs1057517502
NM_000112.4(SLC26A2):c.1394del (p.Leu465fs)	rs386833495
NM_000112.4(SLC26A2):c.1441del (p.Ser481fs)	rs745774620
NM_000112.4(SLC26A2):c.1537_1541dup (p.Ile514fs)	rs1057517511
NM_000112.4(SLC26A2):c.1596del (p.Val533fs)	rs1554095356
NM_000112.4(SLC26A2):c.1607_1610del (p.Cys536fs)	rs769657401
NM_000112.4(SLC26A2):c.1649del (p.Lys550fs)	rs1057517482
NM_000112.4(SLC26A2):c.1764C>A (p.Tyr588Ter)	rs1554095364
NM_000112.4(SLC26A2):c.1806_1809del (p.Thr603fs)	rs1057517530
NM_000112.4(SLC26A2):c.1817del (p.Pro606fs)	rs1554095374
NM_000112.4(SLC26A2):c.1859del (p.Lys620fs)	rs1554095381
NM_000112.4(SLC26A2):c.185C>G (p.Ser62Ter)	rs1057517523
NM_000112.4(SLC26A2):c.188del (p.Asp63fs)	rs1057517496
NM_000112.4(SLC26A2):c.1926del (p.Leu644fs)	rs1481910744
NM_000112.4(SLC26A2):c.1955_1958del (p.Asp652fs)	rs1057517474
NM_000112.4(SLC26A2):c.1956_1957dup (p.Cys653fs)	rs1554095395
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.207del (p.Phe69fs)	rs1057517462
NM_000112.4(SLC26A2):c.239_243dup (p.Pro82fs)	rs1057517504
NM_000112.4(SLC26A2):c.325_326del (p.Leu109fs)	rs1554095125
NM_000112.4(SLC26A2):c.387T>G (p.Tyr129Ter)	rs1554095137
NM_000112.4(SLC26A2):c.391del (p.Leu131fs)	rs786200881
NM_000112.4(SLC26A2):c.3G>T (p.Met1Ile)	rs1554095084
NM_000112.4(SLC26A2):c.438del (p.Phe146fs)	rs769859976
NM_000112.4(SLC26A2):c.451del (p.Tyr151fs)	rs786204675
NM_000112.4(SLC26A2):c.469T>C (p.Ser157Pro)	rs776787689
NM_000112.4(SLC26A2):c.485_486del (p.Val162fs)	rs763198695
NM_000112.4(SLC26A2):c.499del (p.Val167fs)	rs1554095145
NM_000112.4(SLC26A2):c.541C>T (p.Gln181Ter)	rs1057517483
NM_000112.4(SLC26A2):c.578_581del (p.Pro192_Ser193insTer)	rs1554095154
NM_000112.4(SLC26A2):c.611T>G (p.Leu204Ter)	rs1554095156
NM_000112.4(SLC26A2):c.63_64del (p.Asp21fs)	rs1554095097
NM_000112.4(SLC26A2):c.642_643del (p.Ser215fs)	rs1554095167
NM_000112.4(SLC26A2):c.700-2A>G	rs1554095266
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.870del (p.Thr289_Trp290insTer)	rs1225601391
NM_000112.4(SLC26A2):c.918del (p.Thr307fs)	rs1057517526
NM_000112.4(SLC26A2):c.922del (p.Ser308fs)	rs1057517495
NM_000112.4(SLC26A2):c.925del (p.Leu309fs)	rs1554095296

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