List of variants reported as pathogenic for color vision disorder by Natera, Inc.

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Show significances as they were submitted (without aggregation into standard terms)
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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_019098.5(CNGB3):c.1148del (p.Thr383fs)	rs397515360	0.00183
NM_019098.5(CNGB3):c.1006G>T (p.Glu336Ter)	rs373862340	0.00007
NM_019098.5(CNGB3):c.607C>T (p.Arg203Ter)	rs267606739	0.00003
NM_019098.5(CNGB3):c.1432C>T (p.Arg478Ter)	rs201320564	0.00002
NM_019098.5(CNGB3):c.1578+1G>A	rs372006750	0.00002
NM_019098.5(CNGB3):c.646C>T (p.Arg216Ter)	rs768345097	0.00002
NM_019098.5(CNGB3):c.1063C>T (p.Arg355Ter)	rs764742792	0.00001
NM_019098.5(CNGB3):c.1810C>T (p.Arg604Ter)	rs200805087	0.00001
NM_019098.5(CNGB3):c.644-1G>C	rs201794629	0.00001
NM_019098.5(CNGB3):c.1285dup (p.Ser429fs)	rs776896038
NM_019098.5(CNGB3):c.1578+1G>T	rs372006750
NM_019098.5(CNGB3):c.1781+1del	rs1554607546
NM_019098.5(CNGB3):c.391C>T (p.Gln131Ter)	rs786204492
NM_019098.5(CNGB3):c.819_826del (p.Arg274fs)	rs775796581

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