List of variants in gene PRPF8 reported as uncertain significance by Blueprint Genetics

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: 13

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HGVS	dbSNP	gnomAD frequency
NM_006445.4(PRPF8):c.3456G>A (p.Ala1152=)	rs766093345	0.00002
NM_006445.4(PRPF8):c.3335G>A (p.Arg1112His)	rs780480249	0.00001
NM_006445.4(PRPF8):c.6650+5G>A	rs1246430524	0.00001
NM_006445.4(PRPF8):c.1435A>T (p.Thr479Ser)	rs1912768305
NM_006445.4(PRPF8):c.2181+5G>A	rs747396457
NM_006445.4(PRPF8):c.4339-7C>T	rs1911661181
NM_006445.4(PRPF8):c.57C>G (p.Ala19=)	rs943865335
NM_006445.4(PRPF8):c.5951A>G (p.Lys1984Arg)	rs1911312551
NM_006445.4(PRPF8):c.6446_6447insCAC (p.Pro2149_Gln2150insThr)	rs1911082583
NM_006445.4(PRPF8):c.6821C>T (p.Pro2274Leu)	rs1597223721
NM_006445.4(PRPF8):c.6910T>G (p.Phe2304Val)	rs1911004419
NM_006445.4(PRPF8):c.6996C>A (p.Asp2332Glu)	rs1162009923
NM_006445.4(PRPF8):c.851G>A (p.Arg284Gln)	rs1912920951

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