ClinVar Miner

List of variants in gene POLR1C studied for Treacher-Collins syndrome

Included ClinVar conditions (5):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 11
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NM_203290.4(POLR1C):c.229C>T (p.Arg77Ter) rs886061427
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.616del (p.Gln206fs)
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.88C>T (p.Pro30Ser) rs1057519455
NM_203290.4(POLR1C):c.979A>T (p.Lys327Ter) rs387907020
POLR1C, IVS8, 4-BP DEL, +3

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