ClinVar Miner

List of variants reported as likely benign for basal laminar drusen by Illumina Laboratory Services, Illumina

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_000186.3(CFH):c.-79A>G rs35906110 0.02400
NM_000186.4(CFH):c.3148A>T (p.Asn1050Tyr) rs35274867 0.01982
NM_000186.4(CFH):c.245-7G>A rs35814900 0.01519
NM_000186.4(CFH):c.2634C>T (p.His878=) rs35292876 0.00829
NM_000186.4(CFH):c.3102T>C (p.Asn1034=) rs34594237 0.00750
NM_000186.4(CFH):c.3050C>T (p.Thr1017Ile) rs34362004 0.00426
NM_000186.4(CFH):c.2850G>T (p.Gln950His) rs149474608 0.00425
NM_000186.4(CFH):c.-36G>C rs140356702 0.00418
NM_000186.4(CFH):c.428-14T>C rs184188486 0.00271
NM_000186.4(CFH):c.3207T>C (p.Ser1069=) rs62641697 0.00219
NM_000186.4(CFH):c.2867C>T (p.Thr956Met) rs145975787 0.00130
NM_000186.4(CFH):c.1935G>T (p.Thr645=) rs56035657 0.00105
NM_000186.4(CFH):c.2509G>A (p.Val837Ile) rs55807605 0.00050
NM_000186.4(CFH):c.2637A>G (p.Gly879=) rs55752475 0.00050
NM_000186.4(CFH):c.3133+8G>T rs142718541 0.00036
NM_000186.4(CFH):c.3172T>C (p.Tyr1058His) rs55679475 0.00029
NM_000186.4(CFH):c.3178G>C (p.Val1060Leu) rs55771831 0.00029
NM_000186.4(CFH):c.1949G>T (p.Gly650Val) rs143237092 0.00021
NM_000186.4(CFH):c.1548T>A (p.Asn516Lys) rs147403664 0.00010
NM_000186.4(CFH):c.350+9T>C rs201686629 0.00007
NM_000186.3(CFH):c.-124G>T rs527444515

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