ClinVar Miner

List of variants reported as likely pathogenic for diastrophic dysplasia by Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM)

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 18
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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.1394del (p.Leu465fs) rs386833495
NM_000112.3(SLC26A2):c.1451G>A (p.Gly484Asp) rs386833496
NM_000112.3(SLC26A2):c.1650del (p.Ser551fs) rs386833497
NM_000112.3(SLC26A2):c.1724del (p.Lys575fs) rs386833498
NM_000112.3(SLC26A2):c.1976del (p.Phe658_Leu659insTer) rs386833499
NM_000112.3(SLC26A2):c.1983del (p.Ala662fs) rs386833500
NM_000112.3(SLC26A2):c.2120_2121del (p.Leu707fs) rs386833501
NM_000112.3(SLC26A2):c.255del (p.Asn87fs) rs386833502
NM_000112.3(SLC26A2):c.331G>T (p.Asp111Tyr) rs386833503
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.496G>A (p.Gly166Arg) rs386833506
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.906_907delCT rs386833509

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