List of variants in gene PRPF31 reported by Eurofins NTD LLC (GA)

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: 14

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HGVS	dbSNP	gnomAD frequency
NM_015629.4(PRPF31):c.540G>A (p.Ser180=)	rs148941732	0.00035
NM_015629.4(PRPF31):c.632G>A (p.Arg211Gln)	rs201806410	0.00012
NM_015629.4(PRPF31):c.1374+9C>T	rs727504108	0.00009
NM_015629.4(PRPF31):c.138T>C (p.Asp46=)	rs76251057	0.00005
NM_015629.4(PRPF31):c.182C>G (p.Ala61Gly)	rs140412357	0.00003
NM_015629.4(PRPF31):c.149C>T (p.Thr50Ile)	rs373578680	0.00002
NM_015629.4(PRPF31):c.1069C>T (p.Arg357Cys)	rs794727002	0.00001
NM_015629.4(PRPF31):c.837C>T (p.Ile279=)	rs1374316824	0.00001
NM_015629.4(PRPF31):c.1073+1G>A	rs794727001
NM_015629.4(PRPF31):c.1147-9=	rs655240
NM_015629.4(PRPF31):c.1273C>T (p.Gln425Ter)	rs727504107
NM_015629.4(PRPF31):c.527+9G>T	rs376994481
NM_015629.4(PRPF31):c.615C>A (p.Tyr205Ter)	rs144738703
NM_015629.4(PRPF31):c.973G>T (p.Glu325Ter)	rs1555794201

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