List of variants in gene COL18A1, SLC19A1 studied for Knobloch syndrome 1

Minimum submission review status:		Collection method:
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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 4

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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.3491C>T (p.Pro1164Leu)	rs532834770	0.00009
NM_001379500.1(COL18A1):c.2728G>A (p.Gly910Arg)	rs767090801
NM_001379500.1(COL18A1):c.3083C>A (p.Ser1028Ter)

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