ClinVar Miner

List of variants in gene combination BEST1, FTH1 reported as likely benign for MRCS syndrome

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 13
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HGVS dbSNP
NM_002032.3(FTH1):c.*389A>G rs1801327
NM_002032.3(FTH1):c.*396A>G rs565138844
NM_002032.3(FTH1):c.161A>G (p.Lys54Arg) rs186448909
NM_002032.3(FTH1):c.387+12A>G rs201120647
NM_004183.4(BEST1):c.*133T>C rs1801621
NM_004183.4(BEST1):c.*24C>T rs142482048
NM_004183.4(BEST1):c.1064G>A (p.Arg355His) rs368356148
NM_004183.4(BEST1):c.1070C>T (p.Ala357Val) rs17854138
NM_004183.4(BEST1):c.1143C>T (p.Asp381=) rs112199774
NM_004183.4(BEST1):c.1474G>A (p.Val492Ile) rs111326315
NM_004183.4(BEST1):c.1519T>C (p.Ser507Pro) rs141071579
NM_004183.4(BEST1):c.1669G>A (p.Glu557Lys) rs147192139
NM_004183.4(BEST1):c.1699C>T (p.Leu567Phe) rs148060787

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