List of variants in gene UBIAD1 reported as pathogenic for corneal 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: 10

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HGVS	dbSNP	gnomAD frequency
NM_013319.3(UBIAD1):c.530G>A (p.Gly177Glu)	rs397514669	0.00001
NM_013319.3(UBIAD1):c.305A>G (p.Asn102Ser)	rs118203945
NM_013319.3(UBIAD1):c.335A>G (p.Asp112Gly)	rs118203950
NM_013319.3(UBIAD1):c.355A>G (p.Arg119Gly)	rs118203947
NM_013319.3(UBIAD1):c.511T>C (p.Ser171Pro)	rs118203951
NM_013319.3(UBIAD1):c.524C>T (p.Thr175Ile)	rs118203948
NM_013319.3(UBIAD1):c.529G>C (p.Gly177Arg)	rs118203946
NM_013319.3(UBIAD1):c.556G>A (p.Gly186Arg)	rs118203952
NM_013319.3(UBIAD1):c.695A>G (p.Asn232Ser)	rs118203949
NM_013319.3(UBIAD1):c.708C>G (p.Asp236Glu)	rs118203953

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