ClinVar Miner

List of variants in gene POLR1C reported as likely pathogenic for Treacher Collins syndrome 3

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_203290.4(POLR1C):c.836G>A (p.Arg279Gln) rs191582628 0.00010
NM_203290.4(POLR1C):c.326G>A (p.Arg109His) rs796052127 0.00006
NM_203290.4(POLR1C):c.232C>T (p.Arg78Ter) rs1793021342
NM_203290.4(POLR1C):c.364T>A (p.Phe122Ile) rs1554131502
NM_203290.4(POLR1C):c.525del (p.Thr174_Trp175insTer) rs780663139

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