ClinVar Miner

List of variants studied for Pierre Robin syndrome associated with branchial archs anomalies by OMIM

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 28
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HGVS dbSNP
NM_000356.4(TCOF1):c.1404_1405AG[1] (p.Glu469fs) rs587776583
NM_000356.4(TCOF1):c.1404_1405AG[2] (p.Ser470fs) rs587776583
NM_000356.4(TCOF1):c.149A>G (p.Tyr50Cys) rs28941769
NM_000356.4(TCOF1):c.2731C>T (p.Arg911Ter) rs119470017
NM_000356.4(TCOF1):c.2876dup (p.Ser959fs) rs587777314
NM_000356.4(TCOF1):c.376_378+15del rs587776584
NM_000356.4(TCOF1):c.4133_4137AAGAA[1] (p.Lys1380fs) rs587776582
NM_000356.4(TCOF1):c.4134del (p.Glu1379fs) rs587776585
NM_000356.4(TCOF1):c.422dup (p.His141fs) rs587776580
NM_000356.4(TCOF1):c.497_500del (p.Asn166fs) rs587776581
NM_000356.4(TCOF1):c.754C>T (p.Gln252Ter) rs119470016
NM_001206559.2(POLR1D):c.-59+1796_-59+1797dup
NM_001206559.2(POLR1D):c.-59+1847G>A
NM_001206559.2(POLR1D):c.-59+1860T>G
NM_001206559.2(POLR1D):c.-59+1871C>G rs587777841
NM_001206559.2(POLR1D):c.-59+1967C>T
NM_001206559.2(POLR1D):c.-59+1970_-59+1971dup
NM_005850.5(SF3B4):c.1006C>T (p.Arg336Ter) rs397515324
NM_005850.5(SF3B4):c.1147del (p.His383fs) rs387907186
NM_005850.5(SF3B4):c.1147dup (p.His383fs) rs387907186
NM_005850.5(SF3B4):c.1A>G (p.Met1Val) rs387907185
NM_005850.5(SF3B4):c.913+1G>A rs797045125
NM_203290.4(POLR1C):c.835C>T (p.Arg279Trp) rs141156009
NM_203290.4(POLR1C):c.836G>A (p.Arg279Gln) rs191582628
NM_203290.4(POLR1C):c.979A>T (p.Lys327Ter) rs387907020
POLR1C, 1-BP DEL, 87T
POLR1C, IVS8, 4-BP DEL, +3
POLR1D, 2-BP DEL, 326CA

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