List of variants in gene ASPH reported as pathogenic for Facial dysmorphism-lens dislocation-anterior segment abnormalities-spontaneous filtering blebs 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: 10

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HGVS	dbSNP	gnomAD frequency
NM_004318.4(ASPH):c.2203C>T (p.Arg735Trp)	rs374385878	0.00004
NM_004318.4(ASPH):c.2181_2183dup (p.Trp728Ter)	rs765610535	0.00002
NM_004318.4(ASPH):c.2127-2del	rs1200332180	0.00001
NM_004318.4(ASPH):c.1394del (p.Leu465fs)	rs2547031624
NM_004318.4(ASPH):c.1552G>T (p.Gly518Ter)
NM_004318.4(ASPH):c.1695C>A (p.Tyr565Ter)	rs781508063
NM_004318.4(ASPH):c.171G>A (p.Trp57Ter)	rs1563580963
NM_004318.4(ASPH):c.1724G>A (p.Trp575Ter)
NM_004318.4(ASPH):c.1782G>A (p.Trp594Ter)	rs749202132
NM_004318.4(ASPH):c.1852_1856delinsGGG (p.Asn618fs)	rs879255574

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