ClinVar Miner

List of variants in gene POLR1C reported as likely pathogenic for Pierre Robin syndrome associated with branchial archs anomalies

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
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NM_203290.4(POLR1C):c.326G>A (p.Arg109His) rs796052127
NM_203290.4(POLR1C):c.364T>A (p.Phe122Ile) rs1554131502
NM_203290.4(POLR1C):c.525del (p.Thr174_Trp175insTer) rs780663139
NM_203290.4(POLR1C):c.836G>A (p.Arg279Gln) rs191582628

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