ClinVar Miner

List of variants studied for X-linked chondrodysplasia punctata by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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NM_000047.2(ARSL):c.1270G>A (p.Gly424Ser) rs35143646
NM_000047.2(ARSL):c.157A>G (p.Ile53Val) rs61733256
NM_000047.2(ARSL):c.430+8C>T rs56393981
NM_000047.2(ARSL):c.548G>A (p.Arg183His) rs34412194
NM_000047.2(ARSL):c.549C>T (p.Arg183=) rs5982618
NM_000047.3(ARSL):c.684C>G (p.Ile228Met)
NM_000047.3(ARSL):c.897C>T (p.His299=)
NM_001282628.1(ARSL):c.-225_-224GA[3] rs200332753

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