ClinVar Miner

List of variants reported as uncertain significance for Pierre Robin syndrome associated with branchial archs anomalies

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 53
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HGVS dbSNP
NM_000356.4(TCOF1):c.1148G>T (p.Gly383Val) rs369804013
NM_000356.4(TCOF1):c.1862A>T (p.Glu621Val) rs760265000
NM_000356.4(TCOF1):c.187C>T (p.Arg63Trp) rs367964727
NM_000356.4(TCOF1):c.2344C>G (p.Gln782Glu) rs201043592
NM_000356.4(TCOF1):c.2531C>T (p.Pro844Leu) rs150515843
NM_000356.4(TCOF1):c.2785G>A (p.Val929Met) rs368011460
NM_000356.4(TCOF1):c.3449C>T (p.Ser1150Phe) rs1554079581
NM_000356.4(TCOF1):c.3455C>T (p.Pro1152Leu) rs768747268
NM_000356.4(TCOF1):c.3652A>G (p.Ile1218Val) rs1297478685
NM_000356.4(TCOF1):c.4127A>G (p.Glu1376Gly) rs1561543582
NM_000356.4(TCOF1):c.4140_4142GAA[1] (p.Lys1382_Lys1383del) rs151344581
NM_000356.4(TCOF1):c.4140_4142GAA[2] (p.Lys1383del) rs151344581
NM_000356.4(TCOF1):c.449A>G (p.Asn150Ser) rs141805606
NM_000356.4(TCOF1):c.640-1973A>G rs1562326677
NM_001371623.1(TCOF1):c.2361A>C (p.Lys787Asn)
NM_001371623.1(TCOF1):c.2490A>G (p.Pro830=)
NM_001371623.1(TCOF1):c.3301G>A (p.Asp1101Asn)
NM_001371623.1(TCOF1):c.42C>G (p.Ile14Met) rs1581000221
NM_001371623.1(TCOF1):c.539C>T (p.Pro180Leu)
NM_001371623.1(TCOF1):c.630_631insCTG (p.Asp211_Val212insLeu) rs1581075276
NM_005850.4(SF3B4):c.-255A>C rs28362636
NM_005850.4(SF3B4):c.-263dupA rs762430957
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.600G>A (p.Pro200=) rs148753561
NM_005850.5(SF3B4):c.707-8C>A rs371485646
NM_203290.4(POLR1C):c.*105G>C
NM_203290.4(POLR1C):c.*166C>T
NM_203290.4(POLR1C):c.*30T>C rs185499373
NM_203290.4(POLR1C):c.-21A>G rs190872536
NM_203290.4(POLR1C):c.-4G>A rs2231756
NM_203290.4(POLR1C):c.-8G>A
NM_203290.4(POLR1C):c.229C>T (p.Arg77Ter) rs886061427
NM_203290.4(POLR1C):c.325C>T (p.Arg109Cys) rs1255115751
NM_203290.4(POLR1C):c.34A>G (p.Ser12Gly)
NM_203290.4(POLR1C):c.374G>A (p.Arg125Gln)
NM_203290.4(POLR1C):c.395G>A (p.Gly132Asp) rs201320592
NM_203290.4(POLR1C):c.443G>A (p.Arg148Gln) rs144195949
NM_203290.4(POLR1C):c.480C>T (p.Asn160=)
NM_203290.4(POLR1C):c.489C>T (p.Tyr163=) rs187997427
NM_203290.4(POLR1C):c.490G>A (p.Val164Met)
NM_203290.4(POLR1C):c.561G>A (p.Glu187=) rs145813943
NM_203290.4(POLR1C):c.585T>C (p.Asp195=)
NM_203290.4(POLR1C):c.598G>A (p.Ala200Thr) rs148979835
NM_203290.4(POLR1C):c.639C>G (p.His213Gln)
NM_203290.4(POLR1C):c.70-7G>C rs886061425
NM_203290.4(POLR1C):c.70G>A (p.Val24Ile)
NM_203290.4(POLR1C):c.771C>T (p.Phe257=) rs776376952
NM_203290.4(POLR1C):c.809A>T (p.Lys270Ile) rs745835548
NM_203290.4(POLR1C):c.845C>G (p.Thr282Ser)
NM_203290.4(POLR1C):c.88C>T (p.Pro30Ser) rs1057519455
NM_203290.4(POLR1C):c.913C>A (p.His305Asn) rs886061428
NM_203290.4(POLR1C):c.938C>T (p.Thr313Met) rs181576159

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