ClinVar Miner

List of variants reported as uncertain significance for Pierre Robin syndrome associated with a chromosomal anomaly

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 23
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HGVS dbSNP
NM_080647.1(TBX1):c.1019A>T (p.Glu340Val)
NM_080647.1(TBX1):c.1049G>A (p.Gly350Asp) rs781731042
NM_080647.1(TBX1):c.1055C>T (p.Pro352Leu)
NM_080647.1(TBX1):c.1076C>A (p.Ala359Glu)
NM_080647.1(TBX1):c.1123_1125delinsAGGGCCGGCGGC (p.Gly375_Ala376insArgAlaGly) rs1555896709
NM_080647.1(TBX1):c.1134C>T (p.Gly378=) rs941116789
NM_080647.1(TBX1):c.1169G>A (p.Gly390Glu) rs1274082696
NM_080647.1(TBX1):c.1218C>T (p.Gly406=) rs780344405
NM_080647.1(TBX1):c.1234C>A (p.His412Asn)
NM_080647.1(TBX1):c.1253A>T (p.Tyr418Phe)
NM_080647.1(TBX1):c.131_133CGC[3] (p.Pro47_Pro48del) rs886038791
NM_080647.1(TBX1):c.131_133CGC[6] (p.Pro48dup) rs886038791
NM_080647.1(TBX1):c.1341C>A (p.His447Gln)
NM_080647.1(TBX1):c.1434G>A (p.Met478Ile)
NM_080647.1(TBX1):c.167_175del (p.Ala56_Pro58del)
NM_080647.1(TBX1):c.188_190CGC[7] (p.Pro66_Pro67dup)
NM_080647.1(TBX1):c.243C>A (p.Ser81Arg) rs1478778776
NM_080647.1(TBX1):c.324C>T (p.Ala108=) rs757290764
NM_080647.1(TBX1):c.353C>T (p.Ala118Val)
NM_080647.1(TBX1):c.385G>A (p.Glu129Lys) rs1445910672
NM_080647.1(TBX1):c.420T>G (p.Phe140Leu)
NM_080647.1(TBX1):c.609C>T (p.Gly203=)
NM_080647.1(TBX1):c.928G>T (p.Gly310Cys) rs41298838

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