ClinVar Miner

List of variants studied for Chondrocalcinosis

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Total variants: 29
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HGVS dbSNP gnomAD frequency
NM_054027.6(ANKH):c.*3336_*3339del rs377752827 0.00118
NM_054027.6(ANKH):c.*695_*698dup rs555469650 0.00026
NM_054027.6(ANKH):c.*2974G>A rs182073449 0.00021
NM_054027.6(ANKH):c.*1948_*1949del rs527743958 0.00002
NM_054027.6(ANKH):c.*1211del rs886060082
NM_054027.6(ANKH):c.*1318ATTT[1] rs886060081
NM_054027.6(ANKH):c.*1887dup rs201158874
NM_054027.6(ANKH):c.*1893dup rs34294961
NM_054027.6(ANKH):c.*2113del rs753413461
NM_054027.6(ANKH):c.*2243C>G rs531980160
NM_054027.6(ANKH):c.*2301del rs796083754
NM_054027.6(ANKH):c.*2301dup rs796083754
NM_054027.6(ANKH):c.*3900del rs34717032
NM_054027.6(ANKH):c.*3928_*3929del rs527918862
NM_054027.6(ANKH):c.*416_*419dup rs142033023
NM_054027.6(ANKH):c.*5034del rs541644826
NM_054027.6(ANKH):c.*5136del rs577325072
NM_054027.6(ANKH):c.*5281del rs34917282
NM_054027.6(ANKH):c.*5912del rs765143871
NM_054027.6(ANKH):c.*5912dup rs765143871
NM_054027.6(ANKH):c.*939_*942dup rs71603731
NM_054027.6(ANKH):c.-128_-80delinsCGC rs886060203
NM_054027.6(ANKH):c.-291CCG[5] rs531421951
NM_054027.6(ANKH):c.-291CCG[6] rs531421951
NM_054027.6(ANKH):c.-291CCG[8] rs531421951
NM_054027.6(ANKH):c.-291CCG[9] rs531421951
NM_054027.6(ANKH):c.-80GTCGCCCC[1] rs139106733
NM_054027.6(ANKH):c.-80_-79insC rs886060201
NM_054027.6(ANKH):c.-89_-80delinsTC rs886060202

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