List of variants in gene combination B3GLCT, LOC130009514 reported as uncertain significance for Peters plus 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: 7

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HGVS	dbSNP	gnomAD frequency
NM_194318.4(B3GLCT):c.39G>C (p.Pro13=)	rs753313963	0.00116
NM_194318.4(B3GLCT):c.56T>C (p.Leu19Pro)	rs999173078	0.00018
NM_194318.4(B3GLCT):c.17G>A (p.Cys6Tyr)	rs759120105	0.00004
NM_194318.4(B3GLCT):c.28C>T (p.Leu10Phe)	rs1868555206	0.00001
NM_194318.4(B3GLCT):c.-36C>G	rs760425381
NM_194318.4(B3GLCT):c.30C>T (p.Leu10=)	rs1323011571
NM_194318.4(B3GLCT):c.35_52del (p.Pro12_Ala17del)

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