List of variants in gene PRPF31 reported by Mendelics

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: 10

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HGVS	dbSNP	gnomAD frequency
NM_015629.4(PRPF31):c.1146+5_1146+6del	rs2146446040
NM_015629.4(PRPF31):c.165G>A (p.Trp55Ter)	rs1439576531
NM_015629.4(PRPF31):c.205del (p.Glu69fs)	rs2146394096
NM_015629.4(PRPF31):c.322+1G>A	rs1600335289
NM_015629.4(PRPF31):c.335del (p.Lys112fs)	rs1600337158
NM_015629.4(PRPF31):c.3G>A (p.Met1Ile)	rs1600324262
NM_015629.4(PRPF31):c.573C>A (p.Cys191Ter)	rs764232082
NM_015629.4(PRPF31):c.856-1G>A	rs1600350656
NM_015629.4(PRPF31):c.89_92del (p.Pro30fs)	rs1600324442
NM_015629.4(PRPF31):c.992G>A (p.Trp331Ter)	rs1555794205

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