ClinVar Miner

List of variants studied for Baraitser-Winter syndrome 1 by Institute of Human Genetics, University of Leipzig Medical Center

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_001101.5(ACTB):c.19G>A (p.Ala7Thr) rs1562720119
NM_001101.5(ACTB):c.275A>G (p.Asn92Ser) rs1784830795
NM_001101.5(ACTB):c.965C>G (p.Pro322Arg) rs1784802825

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