ClinVar Miner

List of variants in gene PRPF31 reported by Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_015629.4(PRPF31):c.910C>T (p.Arg304Cys)	rs750340477	0.00002
NM_015629.4(PRPF31):c.1074-8_1074-7del	rs1422807866
NM_015629.4(PRPF31):c.1461C>G (p.Leu487=)	rs148353051
NM_015629.4(PRPF31):c.527+9G>T	rs376994481

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