ClinVar Miner

List of variants reported as likely benign for Cone-rod dystrophy 7

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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_014989.7(RIMS1):c.2294A>G (p.Gln765Arg) rs199629596 0.00050
NM_014989.7(RIMS1):c.4159C>T (p.Arg1387Trp) rs201017334 0.00039
NM_014989.7(RIMS1):c.3703G>A (p.Gly1235Arg) rs200637817 0.00033
NM_014989.7(RIMS1):c.2523A>G (p.Glu841=) rs186078277 0.00029
NM_014989.7(RIMS1):c.4191G>A (p.Lys1397=) rs372513852 0.00025
NM_014989.7(RIMS1):c.3430C>T (p.Arg1144Ter) rs202076893 0.00024
NM_014989.7(RIMS1):c.3399-4A>G rs368216570 0.00017
NM_014989.7(RIMS1):c.4197C>T (p.Thr1399=) rs201885523 0.00016
NM_014989.7(RIMS1):c.798A>G (p.Glu266=) rs755868505 0.00016
NM_014989.7(RIMS1):c.4945T>A (p.Ser1649Thr) rs201355053 0.00014
NM_014989.7(RIMS1):c.169G>C (p.Val57Leu) rs200005095 0.00010
NM_014989.7(RIMS1):c.2894C>T (p.Pro965Leu) rs752875047 0.00010
NM_014989.7(RIMS1):c.3921G>T (p.Gly1307=) rs769179703 0.00008
NM_014989.7(RIMS1):c.3758C>T (p.Pro1253Leu) rs367601102 0.00007
NM_014989.7(RIMS1):c.423G>A (p.Ala141=) rs377211296 0.00006
NM_014989.7(RIMS1):c.826G>A (p.Gly276Arg) rs757160554 0.00005
NM_014989.7(RIMS1):c.1384C>A (p.Pro462Thr) rs541997223 0.00003
NM_014989.7(RIMS1):c.1758G>A (p.Thr586=) rs374761298 0.00003
NM_014989.7(RIMS1):c.39C>G (p.Pro13=) rs538562890 0.00003
NM_014989.7(RIMS1):c.4599C>T (p.Thr1533=) rs200818374 0.00003
NM_014989.7(RIMS1):c.928C>T (p.Arg310Cys) rs758719701

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