List of variants in gene IMPG2 reported as pathogenic for Retinitis pigmentosa 56

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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: 11

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HGVS	dbSNP	gnomAD frequency
NM_016247.4(IMPG2):c.2890C>T (p.Arg964Ter)	rs267606875	0.00002
NM_016247.4(IMPG2):c.2716C>T (p.Arg906Ter)	rs267606876	0.00001
NM_016247.4(IMPG2):c.1087C>T (p.Gln363Ter)	rs753747821
NM_016247.4(IMPG2):c.1240-2A>G	rs1706475153
NM_016247.4(IMPG2):c.1826del (p.Val609fs)	rs1553681433
NM_016247.4(IMPG2):c.2233del (p.Glu745fs)	rs1197126131
NM_016247.4(IMPG2):c.2566C>T (p.Gln856Ter)	rs1706436657
NM_016247.4(IMPG2):c.3405_3408del (p.Glu1137fs)	rs1172733048
NM_016247.4(IMPG2):c.635C>G (p.Ser212Ter)	rs267606874
NM_016247.4(IMPG2):c.85+2T>A	rs1553687118
NM_016247.4(IMPG2):c.887+430_908+274del

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