ClinVar Miner

List of variants in gene SF3B4 studied for Pierre Robin syndrome associated with branchial archs anomalies

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 42
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HGVS dbSNP
NM_005850.4(SF3B4):c.-116C>T rs60631776
NM_005850.4(SF3B4):c.-234T>C rs72692813
NM_005850.4(SF3B4):c.-255A>C rs28362636
NM_005850.4(SF3B4):c.-263dupA rs762430957
NM_005850.4(SF3B4):c.-297C>T rs17643644
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.1006C>T (p.Arg336Ter) rs397515324
NM_005850.5(SF3B4):c.1060dup (p.Arg354fs) rs782357237
NM_005850.5(SF3B4):c.1110G>A (p.Pro370=) rs782435530
NM_005850.5(SF3B4):c.1147del (p.His383fs) rs387907186
NM_005850.5(SF3B4):c.1147dup (p.His383fs) rs387907186
NM_005850.5(SF3B4):c.1148dup (p.His383fs) rs797045124
NM_005850.5(SF3B4):c.1199del (p.Pro400fs) rs797045123
NM_005850.5(SF3B4):c.1230_1249del (p.Pro411fs) rs797045954
NM_005850.5(SF3B4):c.1232del (p.Pro411fs) rs797045122
NM_005850.5(SF3B4):c.1252_1258del (p.Leu418fs) rs797045121
NM_005850.5(SF3B4):c.148A>G (p.Thr50Ala) rs886045256
NM_005850.5(SF3B4):c.193G>T (p.Glu65Ter) rs797045955
NM_005850.5(SF3B4):c.1A>G (p.Met1Val) rs387907185
NM_005850.5(SF3B4):c.43_44GT[1] (p.Tyr16fs) rs797045956
NM_005850.5(SF3B4):c.452C>A (p.Ser151Ter) rs797045133
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.600G>A (p.Pro200=) rs148753561
NM_005850.5(SF3B4):c.625C>T (p.Gln209Ter) rs797045132
NM_005850.5(SF3B4):c.661_664dup (p.Asn222fs) rs797045131
NM_005850.5(SF3B4):c.682T>C (p.Leu228=) rs115070660
NM_005850.5(SF3B4):c.707-8C>A rs371485646
NM_005850.5(SF3B4):c.707-8C>T rs371485646
NM_005850.5(SF3B4):c.731_743del (p.Pro244fs) rs797045957
NM_005850.5(SF3B4):c.735C>T (p.Pro245=) rs113949235
NM_005850.5(SF3B4):c.769del (p.Ile257fs) rs797045130
NM_005850.5(SF3B4):c.796dup (p.Met266fs) rs797045129
NM_005850.5(SF3B4):c.827dup (p.Ser277fs) rs797045128
NM_005850.5(SF3B4):c.836_837insGGGTATG (p.Thr280fs) rs797045127
NM_005850.5(SF3B4):c.864del (p.His288fs) rs797045126
NM_005850.5(SF3B4):c.88del (p.Trp30fs) rs797045134
NM_005850.5(SF3B4):c.913+1G>A rs797045125
NM_005850.5(SF3B4):c.978C>A (p.Pro326=) rs58383987

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