List of variants in gene combination GALC, LOC130056217 reported as uncertain significance for eye degenerative 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: 19

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HGVS	dbSNP	gnomAD frequency
NM_000153.4(GALC):c.165C>G (p.Phe55Leu)	rs537461366	0.00007
NM_000153.4(GALC):c.195+15G>A	rs748140458	0.00005
NM_000153.4(GALC):c.157C>T (p.Arg53Trp)	rs752371343	0.00003
NM_000153.4(GALC):c.192C>T (p.Gly64=)	rs753287800	0.00003
NM_000153.4(GALC):c.179C>T (p.Ala60Val)	rs759110815	0.00002
NM_000153.4(GALC):c.131T>C (p.Val44Ala)
NM_000153.4(GALC):c.136G>C (p.Asp46His)	rs751975987
NM_000153.4(GALC):c.141C>G (p.Asp47Glu)
NM_000153.4(GALC):c.142T>G (p.Ser48Ala)
NM_000153.4(GALC):c.145G>C (p.Asp49His)	rs2139769302
NM_000153.4(GALC):c.146A>T (p.Asp49Val)
NM_000153.4(GALC):c.157C>A (p.Arg53=)
NM_000153.4(GALC):c.160G>C (p.Glu54Gln)
NM_000153.4(GALC):c.164T>A (p.Phe55Tyr)
NM_000153.4(GALC):c.174C>G (p.Ile58Met)
NM_000153.4(GALC):c.187_188insAGC (p.Gly63delinsGluArg)	rs1595245961
NM_000153.4(GALC):c.187_195+10dup
NM_000153.4(GALC):c.195+6C>T
NM_000153.4(GALC):c.195G>A (p.Gly65=)

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