ClinVar Miner

List of variants studied for Townes-Brocks syndrome by GeneReviews

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 2
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HGVS dbSNP gnomAD frequency
NM_002968.3(SALL1):c.3160C>T (p.Arg1054Ter) rs864321635
NM_002968.3(SALL1):c.826C>T (p.Arg276Ter) rs104894537

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