ClinVar Miner

List of variants studied for Waardenburg syndrome type 1 by Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_181458.4(PAX3):c.1230C>G (p.Tyr410Ter) rs147111779
NM_181458.4(PAX3):c.166C>T (p.Arg56Cys) rs1279989885
NM_181458.4(PAX3):c.256A>T (p.Ile86Phe) rs1559320299
NM_181458.4(PAX3):c.366_367del (p.Asn125fs) rs2106200406

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