ClinVar Miner

List of variants in gene BEST1 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: 8
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HGVS dbSNP gnomAD frequency
NM_004183.4(BEST1):c.619C>A (p.Leu207Ile) rs74653691 0.01704
NM_004183.3(BEST1):c.-428C>T rs77151527 0.00974
NM_004183.3(BEST1):c.-373T>A rs117165769 0.00757
NM_004183.4(BEST1):c.213C>T (p.Ser71=) rs57132800 0.00289
NM_004183.4(BEST1):c.637-6C>T rs62639356 0.00147
NM_004183.3(BEST1):c.-536T>C rs137965157 0.00090
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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