List of variants in gene CRB1 reported by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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: 14

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HGVS	dbSNP	gnomAD frequency
NM_201253.3(CRB1):c.2128+15A>C	rs75691013	0.01643
NM_201253.3(CRB1):c.600A>G (p.Thr200=)	rs77713666	0.00254
NM_201253.3(CRB1):c.2103C>G (p.Pro701=)	rs144436610	0.00104
NM_201253.3(CRB1):c.2506C>A (p.Pro836Thr)	rs116471343	0.00096
NM_201253.3(CRB1):c.3992G>A (p.Arg1331His)	rs62636285	0.00078
NM_201253.3(CRB1):c.1533C>T (p.Ala511=)	rs142224492	0.00051
NM_201253.3(CRB1):c.1986A>G (p.Ser662=)	rs115400822	0.00021
NM_201253.3(CRB1):c.2401A>T (p.Lys801Ter)	rs137853137	0.00013
NM_201253.3(CRB1):c.1438T>C (p.Cys480Arg)	rs62636264	0.00007
NM_201253.3(CRB1):c.1014C>A (p.Ile338=)	rs771549675	0.00004
NM_201253.3(CRB1):c.1995T>C (p.Asn665=)	rs774597710	0.00001
NM_201253.3(CRB1):c.4074C>T (p.Ile1358=)	rs753097155	0.00001
NM_201253.3(CRB1):c.1292C>T (p.Thr431Ile)	rs751691851
NM_201253.3(CRB1):c.2486T>A (p.Val829Asp)	rs1664670946

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