List of variants in gene ANKH reported as pathogenic for chondrocalcinosis 2

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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: 5

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HGVS	dbSNP	gnomAD frequency
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.143T>C (p.Met48Thr)	rs121908407
NM_054027.6(ANKH):c.14C>T (p.Pro5Leu)	rs121908409

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