ClinVar Miner

List of variants reported as likely pathogenic for Diastrophic dysplasia

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Total variants: 39
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HGVS dbSNP
NM_000112.3(SLC26A2):c.1060G>T (p.Glu354Ter) rs1057517532
NM_000112.3(SLC26A2):c.1157C>T (p.Ala386Val) rs386833493
NM_000112.3(SLC26A2):c.1242_1245del (p.Asn415fs) rs386833494
NM_000112.3(SLC26A2):c.1311dup (p.Ala438fs) rs1057517471
NM_000112.3(SLC26A2):c.1338del (p.Glu447fs) rs1057517502
NM_000112.3(SLC26A2):c.1394del (p.Leu465fs) rs386833495
NM_000112.3(SLC26A2):c.1451G>A (p.Gly484Asp) rs386833496
NM_000112.3(SLC26A2):c.1537_1541dup (p.Ile514fs) rs1057517511
NM_000112.3(SLC26A2):c.1649del (p.Lys550fs) rs1057517482
NM_000112.3(SLC26A2):c.1650del (p.Ser551fs) rs386833497
NM_000112.3(SLC26A2):c.1724del (p.Lys575fs) rs386833498
NM_000112.3(SLC26A2):c.1806_1809del (p.Thr603fs) rs1057517530
NM_000112.3(SLC26A2):c.185C>G (p.Ser62Ter) rs1057517523
NM_000112.3(SLC26A2):c.188del (p.Asp63fs) rs1057517496
NM_000112.3(SLC26A2):c.1955_1958del (p.Asp652fs) rs1057517474
NM_000112.3(SLC26A2):c.1957T>A (p.Cys653Ser) rs104893924
NM_000112.3(SLC26A2):c.1976del (p.Phe658_Leu659insTer) rs386833499
NM_000112.3(SLC26A2):c.1982del (p.Thr661fs) rs762137330
NM_000112.3(SLC26A2):c.1983del (p.Ala662fs) rs386833500
NM_000112.3(SLC26A2):c.1994_1995AC[2] (p.Leu667fs) rs1057517513
NM_000112.3(SLC26A2):c.207del (p.Phe69fs) rs1057517462
NM_000112.3(SLC26A2):c.2120_2121del (p.Leu707fs) rs386833501
NM_000112.3(SLC26A2):c.239_243dup (p.Pro82fs) rs1057517504
NM_000112.3(SLC26A2):c.255del (p.Asn87fs) rs386833502
NM_000112.3(SLC26A2):c.331G>T (p.Asp111Tyr) rs386833503
NM_000112.3(SLC26A2):c.391del (p.Leu131fs) rs786200881
NM_000112.3(SLC26A2):c.403C>A (p.Gln135Lys) rs386833504
NM_000112.3(SLC26A2):c.47C>G (p.Ser16Ter) rs386833505
NM_000112.3(SLC26A2):c.483_484TG[1] (p.Val162fs) rs763198695
NM_000112.3(SLC26A2):c.496G>A (p.Gly166Arg) rs386833506
NM_000112.3(SLC26A2):c.541C>T (p.Gln181Ter) rs1057517483
NM_000112.3(SLC26A2):c.55G>T (p.Gly19Ter) rs386833507
NM_000112.3(SLC26A2):c.700-1G>C rs200963884
NM_000112.3(SLC26A2):c.705_711del (p.Met236fs) rs386833508
NM_000112.3(SLC26A2):c.736_739del (p.Val246fs) rs1057517524
NM_000112.3(SLC26A2):c.746C>G (p.Ser249Ter) rs1057517514
NM_000112.3(SLC26A2):c.904_905CT[1] (p.Leu302_Cys303insTer) rs386833509
NM_000112.3(SLC26A2):c.918del (p.Thr307fs) rs1057517526
NM_000112.3(SLC26A2):c.922del (p.Ser308fs) rs1057517495

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