ClinVar Miner

List of variants reported as pathogenic for chondrocalcinosis by OMIM

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP
ANKH, -11C-T
NM_054027.6(ANKH):c.1165G>A (p.Gly389Arg) rs28939080
NM_054027.6(ANKH):c.13C>A (p.Pro5Thr) rs121908410
NM_054027.6(ANKH):c.143T>C (p.Met48Thr) rs121908407
NM_054027.6(ANKH):c.14C>T (p.Pro5Leu) rs121908409

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