List of variants in gene RPGRIP1 studied for Retinitis pigmentosa

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

Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_020366.4(RPGRIP1):c.2249A>G (p.Tyr750Cys)	rs1594214013	0.00001
NM_020366.4(RPGRIP1):c.2020C>T (p.Pro674Ser)	rs1328030621
NM_020366.4(RPGRIP1):c.2367+23del	rs781728563
NM_020366.4(RPGRIP1):c.2890del (p.Ser964fs)	rs1555302710
NM_020366.4(RPGRIP1):c.2935C>T (p.Gln979Ter)	rs1371805993
NM_020366.4(RPGRIP1):c.2974del (p.Arg992fs)	rs1594224781
NM_020366.4(RPGRIP1):c.3663_3666del (p.Lys1221fs)	rs1594280914

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