ClinVar Miner

List of variants in gene CRX reported as benign for Leber congenital amaurosis 7

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 42
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HGVS dbSNP gnomAD frequency
NM_000554.6(CRX):c.*1455T>A rs10418834 0.68727
NM_000554.6(CRX):c.*2183T>C rs7259671 0.68119
NM_000554.6(CRX):c.*966G>C rs3933489 0.35856
NM_000554.6(CRX):c.*2106C>T rs12982537 0.35558
NM_000554.6(CRX):c.*400A>T rs3848536 0.32741
NM_000554.6(CRX):c.*1346G>A rs12462534 0.32243
NM_000554.6(CRX):c.*579T>C rs4356586 0.32205
NM_000554.6(CRX):c.*401A>C rs3848537 0.31847
NM_000554.6(CRX):c.*682C>T rs3859431 0.31819
NM_000554.6(CRX):c.*2559G>C rs12463238 0.31236
NM_000554.6(CRX):c.*2704C>T rs12974951 0.31186
NM_000554.6(CRX):c.*2717G>T rs11666203 0.30498
NM_000554.6(CRX):c.*3017C>T rs11666244 0.30306
NM_000554.6(CRX):c.*3301T>C rs11670620 0.30261
NM_000554.6(CRX):c.*3279C>T rs11666316 0.30253
NM_000554.6(CRX):c.*1122G>C rs73576710 0.17992
NM_000554.6(CRX):c.*769G>A rs55835533 0.17955
NM_000554.6(CRX):c.100+12C>T rs62128766 0.14108
NM_000554.6(CRX):c.*2171C>T rs77875912 0.12286
NM_000554.6(CRX):c.*2380C>T rs62128810 0.12202
NM_000554.6(CRX):c.*1046C>T rs62128808 0.12194
NM_000554.6(CRX):c.*1289G>A rs62128809 0.12192
NM_000554.6(CRX):c.*3285C>G rs62128811 0.12171
NM_000554.6(CRX):c.*679G>A rs112202398 0.12071
NM_000554.6(CRX):c.*3238G>A rs4081725 0.05457
NM_000554.6(CRX):c.*1792C>T rs56226622 0.04477
NM_000554.6(CRX):c.472G>A (p.Ala158Thr) rs61748445 0.02598
NM_000554.6(CRX):c.101-12A>G rs73941294 0.01428
NM_000554.6(CRX):c.365G>A (p.Gly122Asp) rs61748441 0.00614
NM_000554.6(CRX):c.724G>A (p.Val242Met) rs61748459 0.00521
NM_000554.6(CRX):c.196G>A (p.Val66Ile) rs61748438 0.00231
NM_000554.6(CRX):c.253-15G>A rs145805694 0.00187
NM_000554.6(CRX):c.102C>T (p.Ser34=) rs139778328 0.00102
NM_000554.6(CRX):c.618C>T (p.Ser206=) rs145117150 0.00072
NM_000554.6(CRX):c.551C>T (p.Pro184Leu) rs147558800 0.00006
NM_000554.6(CRX):c.276T>G (p.Ala92=) rs536401910 0.00005
NM_000554.6(CRX):c.591G>A (p.Pro197=) rs769009205 0.00004
NM_000554.6(CRX):c.645C>T (p.Phe215=) rs191794330 0.00004
NM_000554.6(CRX):c.*2155G>A rs113560570
NM_000554.6(CRX):c.*2937T>C rs7248427
NM_000554.6(CRX):c.*591G>C rs3859430
NM_000554.6(CRX):c.101-3del rs727503894

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