ClinVar Miner

List of variants in gene ANKH studied for chondrocalcinosis

Included ClinVar conditions (2):
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Total variants: 33
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HGVS dbSNP
ANKH, -11C-T
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[8] rs531421951
NM_054027.6(ANKH):c.-291_-289CCG[9] rs531421951
NM_054027.6(ANKH):c.-4G>A rs78431233
NM_054027.6(ANKH):c.-80_-73GTCGCCCC[1] rs139106733
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.1011+15T>G rs187483
NM_054027.6(ANKH):c.1012-11T>G rs576472902
NM_054027.6(ANKH):c.102G>A (p.Leu34=) rs116591972
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.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
NM_054027.6(ANKH):c.258C>T (p.Ala86=) rs74355706
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+12G>A rs769050375
NM_054027.6(ANKH):c.313+9G>A rs73048890
NM_054027.6(ANKH):c.314-13C>T rs201856062
NM_054027.6(ANKH):c.39G>C (p.Leu13=) rs748751320
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.585C>T (p.Leu195=) rs200216941
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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