List of variants in gene CRB1 reported as likely 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: 8

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HGVS	dbSNP	gnomAD frequency
NM_201253.3(CRB1):c.2291G>A (p.Arg764His)	rs375040930	0.00003
NM_201253.3(CRB1):c.1633T>C (p.Ser545Pro)	rs1571524102
NM_201253.3(CRB1):c.1843G>A (p.Gly615Ser)	rs1571525145
NM_201253.3(CRB1):c.3299T>C (p.Ile1100Thr)	rs62635659
NM_201253.3(CRB1):c.3653G>A (p.Cys1218Tyr)	rs1450635782
NM_201253.3(CRB1):c.3961T>G (p.Cys1321Gly)	rs62635649
NM_201253.3(CRB1):c.488G>T (p.Cys163Phe)	rs1571848855
NM_201253.3(CRB1):c.498_506del (p.Ile167_Gly169del)	rs398124615

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