List of variants in gene ADAMTS18 reported as pathogenic for inherited retinal dystrophy

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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: 6

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HGVS	dbSNP	gnomAD frequency
NM_199355.4(ADAMTS18):c.3334C>T (p.Arg1112Ter)	rs776870884	0.00001
NM_199355.4(ADAMTS18):c.1731C>G (p.Cys577Trp)	rs148319220
NM_199355.4(ADAMTS18):c.2065G>T (p.Glu689Ter)	rs397515467
NM_199355.4(ADAMTS18):c.514C>T (p.Arg172Ter)
NM_199355.4(ADAMTS18):c.605T>C (p.Leu202Pro)	rs397515468
NM_199355.4(ADAMTS18):c.97C>T (p.Gln33Ter)	rs397515469

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