ClinVar Miner

List of variants in gene SLC26A2 reported as likely pathogenic for multiple epiphyseal dysplasia

Included ClinVar conditions (28):
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Gene type:
ClinVar version:
Total variants: 83
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HGVS dbSNP gnomAD frequency
NM_000112.4(SLC26A2):c.835C>T (p.Arg279Trp) rs104893915 0.00107
NM_000112.4(SLC26A2):c.1957T>A (p.Cys653Ser) rs104893924 0.00013
NM_000112.4(SLC26A2):c.700-1G>C rs200963884 0.00005
NM_000112.4(SLC26A2):c.1639C>T (p.Gln547Ter) rs775143472 0.00003
NM_000112.4(SLC26A2):c.1650del (p.Ser551fs) rs386833497 0.00003
NM_000112.4(SLC26A2):c.2144C>T (p.Ala715Val) rs104893918 0.00003
NM_000112.4(SLC26A2):c.1537_1541dup (p.Ile514fs) rs1057517511 0.00002
NM_000112.4(SLC26A2):c.2033G>T (p.Gly678Val) rs104893916 0.00002
NM_000112.4(SLC26A2):c.1336A>T (p.Lys446Ter) rs1326271684 0.00001
NM_000112.4(SLC26A2):c.1950del (p.Ile651fs) rs774648833 0.00001
NM_000112.4(SLC26A2):c.1982del (p.Thr661fs) rs762137330 0.00001
NM_000112.4(SLC26A2):c.2018A>T (p.Asp673Val) rs774700553 0.00001
NM_000112.4(SLC26A2):c.484G>T (p.Val162Leu) rs752152305 0.00001
NM_000112.4(SLC26A2):c.700-2A>G rs1554095266 0.00001
NM_000112.4(SLC26A2):c.776G>T (p.Gly259Val) rs769319202 0.00001
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.121C>T (p.Gln41Ter)
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.136_137insTT (p.Asp46fs) rs2480770248
NM_000112.4(SLC26A2):c.1394del (p.Leu465fs) rs386833495
NM_000112.4(SLC26A2):c.1434del (p.Gln479fs)
NM_000112.4(SLC26A2):c.1441del (p.Ser481fs) rs745774620
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.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.1714del (p.Leu572fs) rs2113699101
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.1931del (p.Leu644fs)
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.1957T>G (p.Cys653Gly) rs104893924
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.2017_2018del (p.Asp673fs) rs772515802
NM_000112.4(SLC26A2):c.2050del (p.Ala684fs)
NM_000112.4(SLC26A2):c.2057_2061delinsAGAA (p.Cys686_Asn687delinsTer)
NM_000112.4(SLC26A2):c.2065_2066del (p.Thr689fs) rs773490671
NM_000112.4(SLC26A2):c.2065_2068delinsTC (p.Thr689fs) rs2480778001
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.272_276delinsATTT (p.Gly91fs)
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.437_438del (p.Phe146fs)
NM_000112.4(SLC26A2):c.438del (p.Phe146fs) rs769859976
NM_000112.4(SLC26A2):c.438dup (p.Ala147fs) 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.47C>G (p.Ser16Ter) rs386833505
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.736_739del (p.Val246fs) rs1057517524
NM_000112.4(SLC26A2):c.746C>A (p.Ser249Ter) rs1057517514
NM_000112.4(SLC26A2):c.746C>G (p.Ser249Ter) rs1057517514
NM_000112.4(SLC26A2):c.819del (p.Leu275fs) rs750882937
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
NM_000112.4(SLC26A2):c.931T>C (p.Cys311Arg) rs377432261

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