ClinVar Miner

List of variants in gene SF3B4 reported as likely benign for acrofacial dysostosis

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 9
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NM_005850.4(SF3B4):c.-78T>C rs373005050
NM_005850.5(SF3B4):c.-1C>T rs587718470
NM_005850.5(SF3B4):c.-25G>A rs199754113
NM_005850.5(SF3B4):c.-32C>T rs587675943
NM_005850.5(SF3B4):c.519C>T (p.Thr173=) rs143105666
NM_005850.5(SF3B4):c.543C>T (p.Asp181=) rs41265150
NM_005850.5(SF3B4):c.682T>C (p.Leu228=) rs115070660
NM_005850.5(SF3B4):c.707-8C>T rs371485646
NM_005850.5(SF3B4):c.735C>T (p.Pro245=) rs113949235

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