List of variants in gene ANKH reported as benign for craniometaphyseal dysplasia, autosomal dominant

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 28

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HGVS	dbSNP	gnomAD frequency
NM_054027.6(ANKH):c.517-51G>A	rs697570	0.61563
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	0.07896
NM_054027.6(ANKH):c.963A>G (p.Ala321=)	rs2288474	0.06312
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	0.00903
NM_054027.6(ANKH):c.688-14G>A	rs187770990	0.00755
NM_054027.6(ANKH):c.432+13G>A	rs112742497	0.00728
NM_054027.6(ANKH):c.560G>A (p.Arg187Gln)	rs146886108	0.00329
NM_054027.6(ANKH):c.102G>A (p.Leu34=)	rs116591972	0.00196
NM_054027.6(ANKH):c.987C>T (p.Phe329=)	rs150338234	0.00172
NM_054027.6(ANKH):c.-252C>T	rs530246274	0.00168
NM_054027.6(ANKH):c.369G>A (p.Ser123=)	rs145463643	0.00078
NM_054027.6(ANKH):c.681G>A (p.Glu227=)	rs144687394	0.00074
NM_054027.6(ANKH):c.915+14C>T	rs140045509	0.00032
NM_054027.6(ANKH):c.1141+5A>G	rs187972211	0.00030
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	0.00014
NM_054027.6(ANKH):c.1012-11T>G	rs576472902	0.00005
NM_054027.6(ANKH):c.288C>T (p.Ile96=)	rs373730199	0.00004
NM_054027.6(ANKH):c.1000C>G (p.Leu334Val)	rs199961741	0.00003
NM_054027.6(ANKH):c.282G>A (p.Gly94=)	rs760249447	0.00001
NM_054027.6(ANKH):c.517-18C>G	rs377483135
NM_054027.6(ANKH):c.822+55G>T	rs72732802
NM_054027.6(ANKH):c.97-13del	rs765631807

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