List of variants in gene PRPF8 reported as uncertain significance 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
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 12

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HGVS	dbSNP	gnomAD frequency
NM_006445.4(PRPF8):c.306C>T (p.Leu102=)	rs113874709	0.00104
NM_006445.4(PRPF8):c.5352C>T (p.Asn1784=)	rs141456140	0.00096
NM_006445.4(PRPF8):c.6792G>A (p.Ser2264=)	rs369391284	0.00049
NM_006445.4(PRPF8):c.4524C>T (p.Gly1508=)	rs144851263	0.00039
NM_006445.4(PRPF8):c.5506T>C (p.Leu1836=)	rs147958141	0.00027
NM_006445.4(PRPF8):c.2235C>G (p.Ala745=)	rs727504109	0.00011
NM_006445.4(PRPF8):c.5794-3C>G	rs776617795	0.00006
NM_006445.4(PRPF8):c.3045C>T (p.Val1015=)	rs770535800	0.00004
NM_006445.4(PRPF8):c.56C>T (p.Ala19Val)	rs763069309	0.00003
NM_006445.4(PRPF8):c.5376+6T>C	rs369576067	0.00002
NM_006445.4(PRPF8):c.5001C>T (p.Arg1667=)	rs794727562
NM_006445.4(PRPF8):c.5943G>C (p.Val1981=)	rs758937794

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