List of variants in gene combination POMGNT1, TSPAN1 reported as pathogenic for retinal 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: 13

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HGVS	dbSNP	gnomAD frequency
NM_017739.4(POMGNT1):c.1539+1G>A	rs138642840	0.00034
NM_017739.4(POMGNT1):c.1469G>A (p.Cys490Tyr)	rs267606960	0.00004
NM_017739.4(POMGNT1):c.1769G>A (p.Trp590Ter)	rs386834019	0.00003
NM_017739.4(POMGNT1):c.636C>T (p.Phe212=)	rs190057175	0.00002
NM_017739.4(POMGNT1):c.860T>G (p.Ile287Ser)	rs200863680	0.00002
NM_017739.4(POMGNT1):c.1342G>C (p.Gly448Arg)	rs386834014	0.00001
NM_017739.4(POMGNT1):c.1011dup (p.Asp338Ter)	rs751254522
NM_017739.4(POMGNT1):c.1285-2A>G	rs386834012
NM_017739.4(POMGNT1):c.1505G>C (p.Gly502Ala)	rs886037948
NM_017739.4(POMGNT1):c.1876del (p.Val626fs)	rs386834022
NM_017739.4(POMGNT1):c.1895+1G>A	rs386834024
NM_017739.4(POMGNT1):c.359T>G (p.Leu120Arg)	rs886037949
NM_017739.4(POMGNT1):c.466G>A (p.Glu156Lys)	rs886037947

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