List of variants in gene CRB1 reported as pathogenic by Mendelics

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: 12

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HGVS	dbSNP	gnomAD frequency
NM_201253.3(CRB1):c.2506C>A (p.Pro836Thr)	rs116471343	0.00096
NM_201253.3(CRB1):c.2843G>A (p.Cys948Tyr)	rs62645748	0.00013
NM_201253.3(CRB1):c.2234C>T (p.Thr745Met)	rs28939720	0.00003
NM_201253.3(CRB1):c.1455_1458dup (p.Ser487fs)	rs1571523319
NM_201253.3(CRB1):c.2533_2539del (p.Gly845fs)	rs745348555
NM_201253.3(CRB1):c.281_282del (p.Phe94fs)	rs1571848166
NM_201253.3(CRB1):c.2842T>C (p.Cys948Arg)	rs62645747
NM_201253.3(CRB1):c.3462_3463del (p.Cys1154_Glu1155delinsTer)	rs1571557864
NM_201253.3(CRB1):c.4142C>T (p.Pro1381Leu)	rs1667264651
NM_201253.3(CRB1):c.613_619del (p.Ile205fs)	rs62645752
NM_201253.3(CRB1):c.652+1G>A	rs2125304900
NM_201253.3(CRB1):c.984G>A (p.Trp328Ter)	rs1571878277

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