ClinVar Miner

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

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_005148.4(UNC119):c.65G>T (p.Gly22Val) rs199714731 0.00691
NM_000322.5(PRPH2):c.708C>T (p.Tyr236=) rs61755813 0.00062
NM_000322.5(PRPH2):c.938C>T (p.Pro313Leu) rs61748434 0.00044
NM_000322.5(PRPH2):c.*20C>T rs180775924 0.00042
NM_000322.5(PRPH2):c.*1079G>A rs572613522 0.00010
NM_000322.5(PRPH2):c.1008C>T (p.Gly336=) rs752365478 0.00006
NM_000322.5(PRPH2):c.312C>T (p.Ile104=) rs200009675 0.00004
NM_005148.4(UNC119):c.*7G>A rs370209476 0.00004
NM_000322.5(PRPH2):c.454A>G (p.Met152Val) rs146703538 0.00002
NM_000322.5(PRPH2):c.955T>C (p.Phe319Leu) rs139329966 0.00002
NM_005148.4(UNC119):c.*385T>C rs541479092
NM_005148.4(UNC119):c.509A>G (p.Gln170Arg) rs561712812
NM_005148.4(UNC119):c.586T>C (p.Phe196Leu) rs145972313

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