List of variants in gene CRB1 reported as likely pathogenic for Retinitis pigmentosa

Minimum submission review status:		Collection method:
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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 19

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HGVS	dbSNP	gnomAD frequency
NM_201253.3(CRB1):c.614T>C (p.Ile205Thr)	rs62645749	0.00049
NM_201253.3(CRB1):c.135C>G (p.Cys45Trp)	rs145141811	0.00035
NM_201253.3(CRB1):c.2290C>T (p.Arg764Cys)	rs62635654	0.00004
NM_201253.3(CRB1):c.1673T>C (p.Ile558Thr)	rs776788104	0.00001
NM_201253.3(CRB1):c.1182C>A (p.Cys394Ter)	rs115352681
NM_201253.3(CRB1):c.1429G>A (p.Gly477Arg)	rs866822473
NM_201253.3(CRB1):c.1445_1453del (p.Ile482_Thr484del)	rs780580887
NM_201253.3(CRB1):c.1556C>A (p.Pro519Gln)	rs1571523755
NM_201253.3(CRB1):c.1562C>T (p.Ala521Val)	rs1664306632
NM_201253.3(CRB1):c.1667T>C (p.Leu556Pro)	rs1571524269
NM_201253.3(CRB1):c.1844G>T (p.Gly615Val)	rs768905244
NM_201253.3(CRB1):c.1893T>G (p.Tyr631Ter)	rs1571525390
NM_201253.3(CRB1):c.2017A>G (p.Lys673Glu)	rs1553260517
NM_201253.3(CRB1):c.2639A>G (p.Asn880Ser)	rs910489135
NM_201253.3(CRB1):c.2839G>A (p.Glu947Lys)	rs574162883
NM_201253.3(CRB1):c.3121A>G (p.Met1041Val)	rs781705903
NM_201253.3(CRB1):c.3916_3921del (p.Cys1306_Val1307del)	rs1571572235
NM_201253.3(CRB1):c.3991C>G (p.Arg1331Gly)	rs760544654
NM_201253.3(CRB1):c.613_619del (p.Ile205fs)	rs62645752

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