ClinVar Miner

List of variants studied for Pierre Robin syndrome associated with branchial archs anomalies by Illumina Clinical Services Laboratory,Illumina

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 21
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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.1110G>A (p.Pro370=) rs782435530
NM_005850.5(SF3B4):c.148A>G (p.Thr50Ala) rs886045256
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.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.735C>T (p.Pro245=) rs113949235
NM_005850.5(SF3B4):c.978C>A (p.Pro326=) rs58383987
NM_203290.4(POLR1C):c.229C>T (p.Arg77Ter) rs886061427
NM_203290.4(POLR1C):c.836G>A (p.Arg279Gln) rs191582628

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