ClinVar Miner

List of variants studied for Baraitser-Winter syndrome 1 by OMIM

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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NM_001101.5(ACTB):c.1097dup (p.Ser368fs) rs1554329078
NM_001101.5(ACTB):c.1117A>T (p.Lys373Ter) rs1554329068
NM_001101.5(ACTB):c.193C>G (p.Leu65Val) rs281875332
NM_001101.5(ACTB):c.329del (p.Leu110fs) rs1554329523
NM_001101.5(ACTB):c.349G>A (p.Glu117Lys) rs397515470
NM_001101.5(ACTB):c.34A>G (p.Asn12Asp) rs281875331
NM_001101.5(ACTB):c.359C>T (p.Thr120Ile) rs587779774
NM_001101.5(ACTB):c.586C>T (p.Arg196Cys) rs281875333
NM_001101.5(ACTB):c.587G>A (p.Arg196His) rs281875334

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