ClinVar Miner

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

Included ClinVar conditions (16):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_019098.5(CNGB3):c.1179-6T>C rs114127590 0.00352
NM_019098.5(CNGB3):c.1439G>A (p.Arg480Gln) rs77277189 0.00234
NM_019098.5(CNGB3):c.43G>C (p.Gly15Arg) rs150260103 0.00122
NM_019098.5(CNGB3):c.1534A>G (p.Ile512Val) rs146062161 0.00086
NM_019098.5(CNGB3):c.1368C>T (p.Arg456=) rs141934736 0.00054
NM_019098.5(CNGB3):c.2130G>A (p.Glu710=) rs149271453 0.00043
NM_019098.5(CNGB3):c.1815T>G (p.Thr605=) rs143131185 0.00036
NM_019098.5(CNGB3):c.1936T>C (p.Leu646=) rs149119556 0.00031
NM_019098.5(CNGB3):c.912C>T (p.Val304=) rs117806701 0.00029
NM_019098.5(CNGB3):c.474C>T (p.Pro158=) rs151230930 0.00016
NM_019098.5(CNGB3):c.12G>A (p.Ser4=) rs139284415 0.00015
NM_019098.5(CNGB3):c.1833C>T (p.His611=) rs368787128 0.00013
NM_019098.5(CNGB3):c.715C>T (p.Arg239Cys) rs200019416 0.00013
NM_019098.5(CNGB3):c.459A>C (p.Gly153=) rs149945278 0.00012
NM_019098.5(CNGB3):c.1149T>C (p.Thr383=) rs554368357 0.00009
NM_019098.5(CNGB3):c.1110T>C (p.Val370=) rs148884146 0.00007
NM_019098.5(CNGB3):c.720C>T (p.Leu240=) rs770816095 0.00006
NM_019098.5(CNGB3):c.1566C>T (p.Val522=) rs201787120 0.00003
NM_019098.5(CNGB3):c.183G>A (p.Thr61=) rs767130603 0.00003
NM_019098.5(CNGB3):c.1956C>T (p.Thr652=) rs767430685
NM_019098.5(CNGB3):c.2124A>G (p.Gly708=) rs769689524
NM_019098.5(CNGB3):c.2217T>C (p.Asp739=) rs1425570775
NM_019098.5(CNGB3):c.494-11del rs36008065
NM_019098.5(CNGB3):c.504G>T (p.Thr168=) rs751547136

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