ClinVar Miner

List of variants reported as likely pathogenic for multiple epiphyseal dysplasia type 4 by Counsyl

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 46
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HGVS dbSNP gnomAD frequency
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.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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