ClinVar Miner

List of variants studied for Holt-Oram syndrome by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_181486.4(TBX5):c.902C>G (p.Ser301Cys) rs973621936 0.00001
NM_181486.4(TBX5):c.105del (p.Ser36fs) rs1057516042
NM_181486.4(TBX5):c.634A>G (p.Ile212Val)
NM_181486.4(TBX5):c.663+4A>T

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