List of variants in gene PRPF3 studied for retinitis pigmentosa 18

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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 10

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HGVS	dbSNP	gnomAD frequency
NM_004698.4(PRPF3):c.1760-12C>T	rs116427288	0.02182
NM_004698.4(PRPF3):c.508-13C>G	rs373033761	0.00001
NM_004698.4(PRPF3):c.-48-2A>T	rs782747350
NM_004698.4(PRPF3):c.1224AGA[1] (p.Glu409del)	rs1657568113
NM_004698.4(PRPF3):c.1285G>T (p.Asp429Tyr)	rs1572263404
NM_004698.4(PRPF3):c.1466C>A (p.Ala489Asp)	rs121434243
NM_004698.4(PRPF3):c.1477C>T (p.Pro493Ser)	rs121434242
NM_004698.4(PRPF3):c.1481C>T (p.Thr494Met)	rs121434241
NM_004698.4(PRPF3):c.1504G>C (p.Ala502Pro)	rs1658063448
NM_004698.4(PRPF3):c.500C>T (p.Thr167Ile)	rs1656552502

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