ClinVar Miner

List of variants studied for autosomal recessive bestrophinopathy by Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP
NM_004183.4(BEST1):c.1370C>G (p.Pro457Arg) rs1554964287
NM_004183.4(BEST1):c.275G>T (p.Arg92Leu) rs281865225
NM_004183.4(BEST1):c.658C>T (p.Gln220Ter) rs775283269
NM_004183.4(BEST1):c.684C>G (p.Asp228Glu) rs1431752515
NM_004183.4(BEST1):c.695T>G (p.Ile232Ser) rs1565392261
NM_004183.4(BEST1):c.956T>C (p.Leu319Pro) rs1554963305

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