List of variants in gene PRPF31 reported as uncertain significance by CeGaT Center for Human Genetics Tuebingen

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: 11

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HGVS	dbSNP	gnomAD frequency
NM_015629.4(PRPF31):c.632G>A (p.Arg211Gln)	rs201806410	0.00012
NM_015629.4(PRPF31):c.889G>A (p.Ala297Thr)	rs762463081	0.00002
NM_015629.4(PRPF31):c.1140C>T (p.Phe380=)	rs1411083098	0.00001
NM_015629.4(PRPF31):c.4_7del	rs1568603369
NM_015629.4(PRPF31):c.1107_1124del (p.Glu370_Ala375del)	rs1600356799
NM_015629.4(PRPF31):c.1275G>T (p.Gln425His)	rs1600360827
NM_015629.4(PRPF31):c.239-6_239-3del	rs1600334890
NM_015629.4(PRPF31):c.332A>G (p.His111Arg)	rs1555792404
NM_015629.4(PRPF31):c.420G>C (p.Lys140Asn)	rs1555792445
NM_015629.4(PRPF31):c.856-3C>G	rs2073925383
NM_015629.4(PRPF31):c.949G>A (p.Gly317Ser)	rs1600355311

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