ClinVar Miner

List of variants reported as uncertain significance for diastrophic dysplasia by Invitae

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP
NM_000112.3(SLC26A2):c.172C>T (p.Arg58Cys) rs369318758
NM_000112.3(SLC26A2):c.1744C>T (p.Arg582Cys) rs142542254
NM_000112.3(SLC26A2):c.2164T>C (p.Ser722Pro) rs565149029
NM_000112.3(SLC26A2):c.403C>A (p.Gln135Lys) rs386833504
NM_000112.3(SLC26A2):c.782C>G (p.Ser261Cys) rs114260147
NM_000112.3(SLC26A2):c.892C>A (p.His298Asn) rs1025069199
NM_000112.4(SLC26A2):c.1634G>A (p.Arg545His)

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