ClinVar Miner

List of variants in gene POLR2F, SOX10 studied for Hirschsprung disease

Included ClinVar conditions (14):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 3
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NM_001301130.2(POLR2F):c.453-24294G>C rs533778281
NM_001301130.2(POLR2F):c.453-24860G>A rs606231342
NM_006941.4(SOX10):c.832A>G (p.Ile278Val) rs760539449

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