List of variants in gene combination LOC122152296, USH2A reported as likely pathogenic for Retinitis pigmentosa 39

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_206933.4(USH2A):c.2802T>G (p.Cys934Trp)	rs201527662	0.00006
NM_206933.4(USH2A):c.2617G>A (p.Gly873Arg)	rs1037325220	0.00001
NM_206933.4(USH2A):c.2411del (p.Pro804fs)
NM_206933.4(USH2A):c.2431_2432del (p.Lys811fs)	rs2102545818
NM_206933.4(USH2A):c.2615T>A (p.Leu872Ter)
NM_206933.4(USH2A):c.2616del (p.Gly873_Val874insTer)	rs1553320451
NM_206933.4(USH2A):c.2647G>T (p.Glu883Ter)
NM_206933.4(USH2A):c.2649del (p.Glu883fs)	rs2036054669
NM_206933.4(USH2A):c.2649dup (p.Pro884fs)	rs2036054600
NM_206933.4(USH2A):c.2670del (p.Ile891fs)
NM_206933.4(USH2A):c.2691C>A (p.Cys897Ter)
NM_206933.4(USH2A):c.2692C>T (p.Gln898Ter)
NM_206933.4(USH2A):c.2779C>T (p.Gln927Ter)	rs1438734382
NM_206933.4(USH2A):c.2809+1G>C	rs759433119

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