ClinVar Miner

List of variants reported as likely benign for MRCS syndrome 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_004183.4(BEST1):c.*133T>C rs1801621 0.03051
NM_004183.4(BEST1):c.619C>A (p.Leu207Ile) rs74653691 0.01704
NM_002032.3(FTH1):c.*389A>G rs1801327 0.01102
NM_004183.3(BEST1):c.-428C>T rs77151527 0.00974
NM_004183.4(BEST1):c.1474G>A (p.Val492Ile) rs111326315 0.00867
NM_004183.3(BEST1):c.-373T>A rs117165769 0.00757
NM_004183.4(BEST1):c.213C>T (p.Ser71=) rs57132800 0.00289
NM_002032.3(FTH1):c.161A>G (p.Lys54Arg) rs186448909 0.00202
NM_004183.4(BEST1):c.637-6C>T rs62639356 0.00147
NM_002032.3(FTH1):c.*396A>G rs565138844 0.00136
NM_004183.3(BEST1):c.-536T>C rs137965157 0.00090
NM_004183.4(BEST1):c.1519T>C (p.Ser507Pro) rs141071579 0.00073
NM_004183.4(BEST1):c.1669G>A (p.Glu557Lys) rs147192139 0.00047
NM_004183.4(BEST1):c.1699C>T (p.Leu567Phe) rs148060787 0.00043
NM_004183.4(BEST1):c.1070C>T (p.Ala357Val) rs17854138 0.00039
NM_004183.4(BEST1):c.1143C>T (p.Asp381=) rs112199774 0.00029
NM_002032.3(FTH1):c.387+12A>G rs201120647 0.00019
NM_004183.4(BEST1):c.*24C>T rs142482048 0.00009
NM_004183.4(BEST1):c.1064G>A (p.Arg355His) rs368356148 0.00005
NM_004183.4(BEST1):c.954C>G (p.Ser318=) rs144231113 0.00002
NM_004183.4(BEST1):c.152+6G>T rs764420497 0.00001

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