List of variants in gene PRPF31 reported 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
		ClinVar version:

Total variants: 31

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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.414G>A (p.Thr138=)	rs374852494	0.00005
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.756C>T (p.Leu252=)	rs779668113	0.00001
GRCh37/hg19 19q13.42(chr19:54629903-54629992)x1
NM_015629.4(PRPF31):c.*152G>A	rs62144169
NM_015629.4(PRPF31):c.4_7del	rs1568603369
NM_015629.4(PRPF31):c.1048C>T (p.Gln350Ter)	rs1342475527
NM_015629.4(PRPF31):c.1060C>T (p.Arg354Ter)	rs868538598
NM_015629.4(PRPF31):c.1074-2A>T	rs1314226094
NM_015629.4(PRPF31):c.1107_1124del (p.Glu370_Ala375del)	rs1600356799
NM_015629.4(PRPF31):c.1110_1117dup (p.Lys373fs)	rs1600356790
NM_015629.4(PRPF31):c.1275G>T (p.Gln425His)	rs1600360827
NM_015629.4(PRPF31):c.1374+654C>G	rs587776591
NM_015629.4(PRPF31):c.217A>T (p.Lys73Ter)	rs2073709795
NM_015629.4(PRPF31):c.239-6_239-3del	rs1600334890
NM_015629.4(PRPF31):c.279dup (p.Val94fs)	rs1600335148
NM_015629.4(PRPF31):c.322+4_322+7del	rs2073801044
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.466C>T (p.Gln156Ter)	rs2073842959
NM_015629.4(PRPF31):c.528-1G>A	rs2146420442
NM_015629.4(PRPF31):c.582_583del (p.Leu195fs)	rs1555792879
NM_015629.4(PRPF31):c.698-1G>A	rs2073871791
NM_015629.4(PRPF31):c.743dup (p.Asn248fs)	rs1064797250
NM_015629.4(PRPF31):c.81_84del (p.Glu28fs)	rs2073701678
NM_015629.4(PRPF31):c.856-3C>G	rs2073925383
NM_015629.4(PRPF31):c.904del (p.Ala302Glnfs)	rs1555793828
NM_015629.4(PRPF31):c.946-1G>C	rs2073961882
NM_015629.4(PRPF31):c.949G>A (p.Gly317Ser)	rs1600355311

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