ClinVar Miner

List of variants in gene ANKH studied for chondrocalcinosis 2

Included ClinVar conditions (2):
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Gene type:
ClinVar version:
Total variants: 40
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HGVS dbSNP gnomAD frequency
NM_054027.6(ANKH):c.1011+15T>G rs187483 0.20625
NM_054027.6(ANKH):c.294C>T (p.Ala98=) rs17251667 0.13744
NM_054027.6(ANKH):c.313+9G>A rs73048890 0.07805
NM_054027.6(ANKH):c.963A>G (p.Ala321=) rs2288474 0.06365
NM_054027.6(ANKH):c.-4G>A rs78431233 0.05430
NM_054027.6(ANKH):c.405C>T (p.Leu135=) rs149656955 0.00943
NM_054027.6(ANKH):c.258C>T (p.Ala86=) rs74355706 0.00836
NM_054027.6(ANKH):c.688-14G>A rs187770990 0.00775
NM_054027.6(ANKH):c.432+13G>A rs112742497 0.00684
NM_054027.6(ANKH):c.560G>A (p.Arg187Gln) rs146886108 0.00334
NM_054027.6(ANKH):c.102G>A (p.Leu34=) rs116591972 0.00196
NM_054027.6(ANKH):c.-252C>T rs530246274 0.00152
NM_054027.6(ANKH):c.681G>A (p.Glu227=) rs144687394 0.00074
NM_054027.6(ANKH):c.369G>A (p.Ser123=) rs145463643 0.00072
NM_054027.6(ANKH):c.1141+5A>G rs187972211 0.00035
NM_054027.6(ANKH):c.1012-11T>G rs576472902 0.00033
NM_054027.6(ANKH):c.915+14C>T rs140045509 0.00032
NM_054027.6(ANKH):c.1021G>A (p.Val341Met) rs199664007 0.00029
NM_054027.6(ANKH):c.314-13C>T rs201856062 0.00016
NM_054027.6(ANKH):c.1115G>A (p.Arg372Gln) rs544848340 0.00013
NM_054027.6(ANKH):c.288C>T (p.Ile96=) rs373730199 0.00005
NM_054027.6(ANKH):c.313+12G>A rs769050375 0.00004
NM_054027.6(ANKH):c.1000C>G (p.Leu334Val) rs199961741 0.00003
NM_054027.6(ANKH):c.600C>T (p.Gly200=) rs140150501 0.00002
NM_054027.6(ANKH):c.1071C>T (p.Ile357=) rs886060088 0.00001
NM_054027.6(ANKH):c.156C>T (p.Tyr52=) rs745669233 0.00001
NM_054027.6(ANKH):c.282G>A (p.Gly94=) rs760249447 0.00001
NM_054027.6(ANKH):c.39G>C (p.Leu13=) rs748751320 0.00001
NM_054027.6(ANKH):c.937G>A (p.Val313Met) rs1490930729 0.00001
NM_054027.6(ANKH):c.-11C>T rs2126640512
NM_054027.6(ANKH):c.1126TTC[1] (p.Phe377del) rs121908405
NM_054027.6(ANKH):c.13C>A (p.Pro5Thr) rs121908410
NM_054027.6(ANKH):c.13C>T (p.Pro5Ser) 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.585C>T (p.Leu195=) rs200216941
NM_054027.6(ANKH):c.830C>T (p.Ala277Val) rs1738522430
NM_054027.6(ANKH):c.897G>A (p.Val299=) rs748349350
NM_054027.6(ANKH):c.97-9C>T rs1739348689
NM_054027.6(ANKH):c.974A>G (p.Lys325Arg)

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