ClinVar Miner

List of variants studied for Bjornstad syndrome by Genome-Nilou Lab

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001079866.2(BCS1L):c.1017T>C (p.Pro339=) rs35843327 0.15996
NM_001079866.2(BCS1L):c.655+63C>T rs36085075 0.05627
NM_001079866.2(BCS1L):c.996C>T (p.Asn332=) rs33946522 0.05607
NM_001079866.2(BCS1L):c.1220del (p.Pro407fs) rs2106333049
NM_001079866.2(BCS1L):c.628G>A (p.Asp210Asn) rs58447305

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