ClinVar Miner

List of variants in gene ANKH reported as benign for chondrocalcinosis

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 22
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NM_054027.6(ANKH):c.-4G>A rs78431233
NM_054027.6(ANKH):c.-80_-73GTCGCCCC[1] rs139106733
NM_054027.6(ANKH):c.1011+15T>G rs187483
NM_054027.6(ANKH):c.1012-11T>G rs576472902
NM_054027.6(ANKH):c.1021G>A (p.Val341Met)
NM_054027.6(ANKH):c.102G>A (p.Leu34=) rs116591972
NM_054027.6(ANKH):c.1141+5A>G rs187972211
NM_054027.6(ANKH):c.258C>T (p.Ala86=) rs74355706
NM_054027.6(ANKH):c.282G>A (p.Gly94=)
NM_054027.6(ANKH):c.288C>T (p.Ile96=) rs373730199
NM_054027.6(ANKH):c.294C>T (p.Ala98=) rs17251667
NM_054027.6(ANKH):c.313+9G>A rs73048890
NM_054027.6(ANKH):c.314-13C>T rs201856062
NM_054027.6(ANKH):c.369G>A (p.Ser123=) rs145463643
NM_054027.6(ANKH):c.405C>T (p.Leu135=) rs149656955
NM_054027.6(ANKH):c.432+13G>A rs112742497
NM_054027.6(ANKH):c.560G>A (p.Arg187Gln) rs146886108
NM_054027.6(ANKH):c.681G>A (p.Glu227=) rs144687394
NM_054027.6(ANKH):c.688-14G>A rs187770990
NM_054027.6(ANKH):c.963A>G (p.Ala321=) rs2288474

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