ClinVar Miner

List of variants in gene POLR1C reported as pathogenic for auditory system disease

Included ClinVar conditions (549):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
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NM_203290.4(POLR1C):c.616del (p.Gln206fs) rs1156407486
NM_203290.4(POLR1C):c.835C>T (p.Arg279Trp) rs141156009
NM_203290.4(POLR1C):c.836G>A (p.Arg279Gln) rs191582628
NM_203290.4(POLR1C):c.979A>T (p.Lys327Ter) rs387907020
POLR1C, IVS8, 4-BP DEL, +3

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