ClinVar Miner

List of variants reported as uncertain significance for Townes-Brocks syndrome 1 by Illumina Laboratory Services, Illumina

Included ClinVar conditions (1):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_002968.3(SALL1):c.*1033dup rs551604859
NM_002968.3(SALL1):c.*563del rs886052078
NM_002968.3(SALL1):c.*705_*706del rs886052076
NM_002968.3(SALL1):c.*920CTT[2] rs527584319
NM_002968.3(SALL1):c.43G>A (p.Asp15Asn) rs886052085
NM_002968.3(SALL1):c.448AGC[12] (p.Ser158_Ser159dup) rs113614842
NM_002968.3(SALL1):c.448AGC[9] (p.Ser159del) rs113614842
NM_002968.3(SALL1):c.478GGC[5] (p.Gly163dup) rs1555475414

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