List of variants in gene PRPF8 reported as benign for retinal disorder

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 43

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HGVS	dbSNP	gnomAD frequency
NM_006445.4(PRPF8):c.891T>C (p.Asn297=)	rs7503397	0.31150
NM_006445.4(PRPF8):c.3774+6G>A	rs11078563	0.31089
NM_006445.4(PRPF8):c.1914C>G (p.Leu638=)	rs11078565	0.31074
NM_006445.4(PRPF8):c.2847G>A (p.Pro949=)	rs33965342	0.29624
NM_006445.4(PRPF8):c.637T>C (p.Leu213=)	rs11559305	0.27527
NM_006445.4(PRPF8):c.6588T>C (p.His2196=)	rs1802491	0.21248
NM_006445.4(PRPF8):c.3775-14T>C	rs3814969	0.17793
NM_006445.4(PRPF8):c.3939G>A (p.Pro1313=)	rs35169383	0.02787
NM_006445.4(PRPF8):c.6294G>A (p.Lys2098=)	rs11559309	0.02784
NM_006445.4(PRPF8):c.4639-13G>A	rs62088058	0.02780
NM_006445.4(PRPF8):c.993-7A>G	rs62089988	0.02527
NM_006445.4(PRPF8):c.4011A>G (p.Gln1337=)	rs118000367	0.01936
NM_006445.4(PRPF8):c.1290-10A>G	rs73291009	0.01904
NM_006445.4(PRPF8):c.2873-13T>C	rs57276551	0.01890
NM_006445.4(PRPF8):c.6247C>T (p.Leu2083=)	rs34341522	0.01503
NM_006445.4(PRPF8):c.3299+14T>C	rs16951071	0.01464
NM_006445.4(PRPF8):c.2631G>A (p.Ala877=)	rs35420265	0.01452
NM_006445.4(PRPF8):c.1855-13C>T	rs16951135	0.01407
NM_006445.4(PRPF8):c.2409G>A (p.Ala803=)	rs114284408	0.01227
NM_006445.4(PRPF8):c.3061-11T>G	rs11652160	0.01070
NM_006445.4(PRPF8):c.5469C>T (p.His1823=)	rs115404141	0.00600
NM_006445.4(PRPF8):c.101-3C>T	rs75670228	0.00453
NM_006445.4(PRPF8):c.4707G>A (p.Leu1569=)	rs143237388	0.00343
NM_006445.4(PRPF8):c.2493C>G (p.Ser831=)	rs146749363	0.00299
NM_006445.4(PRPF8):c.435-6T>G	rs75026252	0.00262
NM_006445.4(PRPF8):c.5352C>T (p.Asn1784=)	rs141456140	0.00096
NM_006445.4(PRPF8):c.3084T>C (p.Tyr1028=)	rs75163090	0.00035
NM_006445.4(PRPF8):c.2601C>T (p.Ile867=)	rs117892584	0.00034
NM_006445.4(PRPF8):c.5412C>T (p.Asn1804=)	rs151214963	0.00034
NM_006445.4(PRPF8):c.3045C>T (p.Val1015=)	rs770535800	0.00004
NM_006445.4(PRPF8):c.6108A>G (p.Gln2036=)	rs373131838	0.00004
NM_006445.4(PRPF8):c.6645A>G (p.Thr2215=)	rs143748924	0.00003
NM_006445.4(PRPF8):c.72C>T (p.Tyr24=)	rs557206853	0.00003
NM_006445.4(PRPF8):c.1142C>T (p.Pro381Leu)	rs745441870	0.00002
NM_006445.4(PRPF8):c.6120G>A (p.Thr2040=)	rs761118301	0.00001
NM_006445.4(PRPF8):c.-79C>T	rs74635192
NM_006445.4(PRPF8):c.1335C>G (p.Val445=)	rs1912780033
NM_006445.4(PRPF8):c.3198G>A (p.Gln1066=)
NM_006445.4(PRPF8):c.434+18A>C	rs72820383
NM_006445.4(PRPF8):c.4380T>C (p.His1460=)
NM_006445.4(PRPF8):c.4680C>T (p.Ile1560=)	rs1911629033
NM_006445.4(PRPF8):c.5061C>T (p.Tyr1687=)
NM_006445.4(PRPF8):c.6854-4G>A	rs75996323

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