ClinVar Miner

List of variants reported as benign for Retinitis Pigmentosa, Recessive by Illumina Laboratory Services, Illumina

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Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_001278293.3(ARL6):c.*225G>C rs4857294 0.92035
NM_001242957.3(MAK):c.*1688C>A rs501948 0.83306
NM_001242957.3(MAK):c.1905T>C (p.His635=) rs126405 0.83306
NM_001242957.3(MAK):c.*1373C>T rs526495 0.79628
NM_000350.3(ABCA4):c.6069T>C (p.Ile2023=) rs1762114 0.78856
NM_022367.4(SEMA4A):c.1716C>T (p.Pro572=) rs12401573 0.52167
NM_004183.3(BEST1):c.-221T>C rs972353 0.48222
NM_000350.3(ABCA4):c.1240-14C>T rs4147830 0.47169
NM_004183.4(BEST1):c.1608T>C (p.Thr536=) rs1800009 0.41922
NM_000350.3(ABCA4):c.6285T>C (p.Asp2095=) rs1801555 0.27862
NM_004183.4(BEST1):c.1410G>A (p.Thr470=) rs149698 0.22214
NM_000350.3(ABCA4):c.6764G>T (p.Ser2255Ile) rs6666652 0.17582
NM_004183.4(BEST1):c.1557C>T (p.Ser519=) rs1800008 0.15775
NM_000350.3(ABCA4):c.6730-3T>C rs1800717 0.15096
NM_004183.3(BEST1):c.-329C>T rs972354 0.14911
NM_002032.3(FTH1):c.*222C>T rs17156609 0.03454
NM_004183.4(BEST1):c.1023C>T (p.Pro341=) rs1801390 0.02837
NM_002032.3(FTH1):c.*319G>A rs75281081 0.02107
NM_000350.3(ABCA4):c.1356+5dup rs281865386
NM_000350.3(ABCA4):c.4774-17_4774-16del rs55860151
NM_001142800.2(EYS):c.2023+15dup rs35045551
NM_001142800.2(EYS):c.6079-24TC[10] rs35395170
NM_001242957.3(MAK):c.*905del rs35696238

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