ClinVar Miner

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

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
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HGVS dbSNP
NG_008346.1:g.8253G>A rs75281081
NM_002032.2(FTH1):c.*222C>T rs17156609
NM_004183.3(BEST1):c.1023C>T (p.Pro341=) rs1801390
NM_004183.3(BEST1):c.1410G>A (p.Thr470=) rs149698
NM_004183.3(BEST1):c.1557C>T (p.Ser519=) rs1800008
NM_004183.3(BEST1):c.1608T>C (p.Thr536=) rs1800009

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