ClinVar Miner

List of variants in gene ANKH reported as uncertain significance for chondrocalcinosis

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 14
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HGVS dbSNP
NM_054027.6(ANKH):c.-128_-80delinsCGC rs886060203
NM_054027.6(ANKH):c.-291_-289CCG[5] rs531421951
NM_054027.6(ANKH):c.-291_-289CCG[6] rs531421951
NM_054027.6(ANKH):c.-291_-289CCG[9] rs531421951
NM_054027.6(ANKH):c.-80_-79insC rs886060201
NM_054027.6(ANKH):c.-87T>A rs886060204
NM_054027.6(ANKH):c.-89_-80delinsTC rs886060202
NM_054027.6(ANKH):c.1071C>T (p.Ile357=) rs886060088
NM_054027.6(ANKH):c.1115G>A (p.Arg372Gln) rs544848340
NM_054027.6(ANKH):c.288C>T (p.Ile96=) rs373730199
NM_054027.6(ANKH):c.313+12G>A rs769050375
NM_054027.6(ANKH):c.314-13C>T rs201856062
NM_054027.6(ANKH):c.39G>C (p.Leu13=) rs748751320
NM_054027.6(ANKH):c.585C>T (p.Leu195=) rs200216941

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