ClinVar Miner

List of variants reported as likely pathogenic for diastrophic dysplasia by Invitae

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP
NM_000112.3(SLC26A2):c.1650del (p.Ser551fs) rs386833497
NM_000112.3(SLC26A2):c.1724del (p.Lys575fs) rs386833498
NM_000112.4(SLC26A2):c.1011_1013TGT[3] (p.Val341del) rs121908077
NM_000112.4(SLC26A2):c.1878del (p.Thr627fs)
NM_000112.4(SLC26A2):c.1950del (p.Ile651fs)
NM_000112.4(SLC26A2):c.2015_2016GA[1] (p.Asp673fs)

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