ClinVar Miner

List of variants reported as likely benign for MRCS syndrome

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 22
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HGVS dbSNP
NM_001363592.1(BEST1):c.-373T>A rs117165769
NM_001363592.1(BEST1):c.-428C>T rs77151527
NM_001363592.1(BEST1):c.-536T>C rs137965157
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_004183.3(BEST1):c.422G>A (p.Arg141His) rs121918284
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
NM_004183.4(BEST1):c.213C>T (p.Ser71=) rs57132800
NM_004183.4(BEST1):c.495G>A (p.Pro165=) rs182941675
NM_004183.4(BEST1):c.618G>A (p.Leu206=) rs62641693
NM_004183.4(BEST1):c.619C>A (p.Leu207Ile) rs74653691
NM_004183.4(BEST1):c.637-6C>T rs62639356

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