List of variants in gene ZNF335 reported as pathogenic for autosomal recessive disease

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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: 10

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HGVS	dbSNP	gnomAD frequency
NM_022095.4(ZNF335):c.3998A>G (p.Glu1333Gly)	rs200635860	0.00025
NM_022095.4(ZNF335):c.1505A>G (p.Tyr502Cys)	rs753888773	0.00003
NM_022095.4(ZNF335):c.3346G>A (p.Gly1116Arg)	rs780393773	0.00001
NM_022095.4(ZNF335):c.1399T>C (p.Cys467Arg)	rs1568822376
NM_022095.4(ZNF335):c.2168TCT[1] (p.Phe724del)	rs773283542
NM_022095.4(ZNF335):c.2744_2747del (p.Ser915fs)	rs753460205
NM_022095.4(ZNF335):c.3014_3015insG (p.Ser1007fs)	rs2145359858
NM_022095.4(ZNF335):c.3332G>A (p.Arg1111His)	rs397514642
NM_022095.4(ZNF335):c.3787G>T (p.Glu1263Ter)	rs749190523
NM_022095.4(ZNF335):c.715GTG[3] (p.Val242del)	rs759141702

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