ClinVar Miner

List of variants reported as benign for Stargardt disease 4 by Illumina Laboratory Services, Illumina

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_006017.3(PROM1):c.*1078A>G rs3130 0.53265
NM_006017.3(PROM1):c.303+6G>A rs2078622 0.39397
NM_006017.3(PROM1):c.2374-6T>C rs6449209 0.34571
NM_006017.3(PROM1):c.*667A>C rs2240688 0.21643
NM_006017.3(PROM1):c.2281-6C>G rs3815344 0.20394
NM_006017.3(PROM1):c.786G>A (p.Ala262=) rs2286455 0.09727
NM_006017.3(PROM1):c.129C>T (p.Thr43=) rs10033086 0.09038
NM_006017.3(PROM1):c.15C>T (p.Leu5=) rs10033189 0.06194
NM_006017.3(PROM1):c.1983+14G>A rs4698436 0.04259
NM_006017.3(PROM1):c.228G>A (p.Leu76=) rs76963591 0.03578
NM_006017.3(PROM1):c.1768-5C>T rs55708318 0.03551
NM_006017.3(PROM1):c.631-14T>C rs16892824 0.01810
NM_006017.3(PROM1):c.55T>G (p.Ser19Ala) rs189108830 0.00928
NM_006017.3(PROM1):c.1751A>G (p.His584Arg) rs140027620 0.00608
NM_006017.3(PROM1):c.1911+14G>A rs79077926 0.00565
NM_006017.3(PROM1):c.1683-3C>T rs143470288 0.00518
NM_006017.3(PROM1):c.*684C>T rs140362696 0.00496
NM_006017.3(PROM1):c.1497C>T (p.Ile499=) rs113895168 0.00322
NM_006017.3(PROM1):c.1977C>T (p.Asn659=) rs149028760 0.00222
NM_006017.3(PROM1):c.-25T>A rs149845694 0.00194
NM_006017.3(PROM1):c.1579-6T>C rs181261277 0.00190
NM_006017.3(PROM1):c.868A>C (p.Ser290Arg) rs182096110 0.00128
NM_006017.3(PROM1):c.678G>A (p.Ala226=) rs187116049 0.00020
NM_006017.3(PROM1):c.2485G>A (p.Asp829Asn) rs146434364 0.00010
NM_006017.3(PROM1):c.*1052G>A rs577484119 0.00004

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