List of variants in gene combination COL18A1, SLC19A1 reported as likely pathogenic for retinal disorder

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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: 7

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HGVS	dbSNP	gnomAD frequency
NM_001379500.1(COL18A1):c.3523_3524del (p.Leu1175fs)	rs398122391	0.00029
NM_001379500.1(COL18A1):c.3241C>T (p.Arg1081Ter)	rs771752014	0.00001
NM_001379500.1(COL18A1):c.2728G>A (p.Gly910Arg)	rs767090801
NM_001379500.1(COL18A1):c.3083C>A (p.Ser1028Ter)
NM_001379500.1(COL18A1):c.3448C>T (p.Arg1150Ter)	rs1057518802
NM_001379500.1(COL18A1):c.3826_3827del (p.Trp1276fs)	rs1602667345
NM_030582.4(COL18A1):c.3364_3371del (p.Gly1122fs)	rs1555874538

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