ClinVar Miner

List of variants reported as pathogenic for diastrophic dysplasia by OMIM

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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NM_000112.3(SLC26A2):c.-26+2T>C rs386833492
NM_000112.3(SLC26A2):c.1535C>A (p.Thr512Lys) rs121908078
NM_000112.3(SLC26A2):c.1724del (p.Lys575fs) rs386833498
NM_000112.3(SLC26A2):c.398C>T (p.Ala133Val) rs267607055
NM_000112.3(SLC26A2):c.532C>T (p.Arg178Ter) rs104893919
NM_000112.4(SLC26A2):c.835C>T (p.Arg279Trp) rs104893915

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