List of variants in gene combination COL18A1, SLC19A1 reported as benign for Knobloch syndrome

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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: 23

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HGVS	dbSNP	gnomAD frequency
NM_001379500.1(COL18A1):c.*340G>A	rs7867	0.46140
NM_001379500.1(COL18A1):c.3447G>A (p.Ala1149=)	rs1050351	0.43308
NM_001379500.1(COL18A1):c.*16G>A	rs7499	0.41352
NM_001379500.1(COL18A1):c.3231A>G (p.Thr1077=)	rs12483761	0.14219
NM_001379500.1(COL18A1):c.3778G>A (p.Asp1260Asn)	rs12483377	0.06693
NM_001379500.1(COL18A1):c.*277T>C	rs17004784	0.03626
NM_001379500.1(COL18A1):c.3681C>T (p.Ile1227=)	rs2838952	0.02704
NM_001379500.1(COL18A1):c.2781C>T (p.Pro927=)	rs11544970	0.02268
NM_001379500.1(COL18A1):c.2728-8G>A	rs116618591	0.01979
NM_001379500.1(COL18A1):c.2787C>T (p.Gly929=)	rs11544971	0.01462
NM_001379500.1(COL18A1):c.*6G>A	rs138930698	0.00643
NM_001379500.1(COL18A1):c.2815G>A (p.Gly939Ser)	rs753363173	0.00267
NM_001379500.1(COL18A1):c.*918C>T	rs117981301	0.00108
NM_001379500.1(COL18A1):c.*1129A>C	rs576842258	0.00001
NM_001379500.1(COL18A1):c.1148_1149insCA	rs78063943
NM_001379500.1(COL18A1):c.*306G>C	rs17004785
NM_001379500.1(COL18A1):c.*71G>A	rs8199
NM_001379500.1(COL18A1):c.*852G>C	rs17004786
NM_001379500.1(COL18A1):c.2782G>A (p.Gly928Arg)	rs187721798
NM_001379500.1(COL18A1):c.2782G>C (p.Gly928Arg)	rs187721798
NM_001379500.1(COL18A1):c.2824_2837= (p.Gly942_Pro946=)
NM_001379500.1(COL18A1):c.2829CCCAGGCCC[1] (p.938PGP[3])	rs78227997
NM_001379500.1(COL18A1):c.3495+14del	rs3835286

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