ClinVar Miner

List of variants studied for Treacher Collins syndrome 3

Included ClinVar conditions (2):
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Total variants: 44
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HGVS dbSNP gnomAD frequency
NM_203290.4(POLR1C):c.656-9C>T rs113383614 0.03573
NM_203290.4(POLR1C):c.-15G>A rs2231757 0.01357
NM_203290.4(POLR1C):c.634A>G (p.Met212Val) rs79222964 0.00431
NM_203290.4(POLR1C):c.*30T>C rs185499373 0.00407
NM_203290.4(POLR1C):c.-4G>A rs2231756 0.00388
NM_203290.4(POLR1C):c.-8G>A rs142683244 0.00081
NM_203290.4(POLR1C):c.561G>A (p.Glu187=) rs145813943 0.00055
NM_203290.4(POLR1C):c.421C>T (p.Arg141Cys) rs148385032 0.00054
NM_203290.4(POLR1C):c.116C>T (p.Ala39Val) rs148236144 0.00038
NM_203290.4(POLR1C):c.490G>A (p.Val164Met) rs200525225 0.00020
NM_203290.4(POLR1C):c.65G>A (p.Arg22His) rs149529196 0.00018
NM_203290.4(POLR1C):c.845C>G (p.Thr282Ser) rs371479150 0.00018
NM_203290.4(POLR1C):c.*105G>C rs552748715 0.00016
NM_203290.4(POLR1C):c.598G>A (p.Ala200Thr) rs148979835 0.00013
NM_203290.4(POLR1C):c.836G>A (p.Arg279Gln) rs191582628 0.00010
NM_203290.4(POLR1C):c.585T>C (p.Asp195=) rs766760388 0.00008
NM_203290.4(POLR1C):c.489C>T (p.Tyr163=) rs187997427 0.00007
NM_203290.4(POLR1C):c.771C>T (p.Phe257=) rs776376952 0.00007
NM_203290.4(POLR1C):c.326G>A (p.Arg109His) rs796052127 0.00006
NM_203290.4(POLR1C):c.835C>T (p.Arg279Trp) rs141156009 0.00006
NM_203290.4(POLR1C):c.*166C>T rs928739057 0.00004
NM_203290.4(POLR1C):c.34A>G (p.Ser12Gly) rs200115914 0.00003
NM_203290.4(POLR1C):c.443G>A (p.Arg148Gln) rs144195949 0.00003
NM_203290.4(POLR1C):c.229C>T (p.Arg77Ter) rs886061427 0.00001
NM_203290.4(POLR1C):c.325C>T (p.Arg109Cys) rs1255115751 0.00001
NM_203290.4(POLR1C):c.480C>T (p.Asn160=) rs745325916 0.00001
NM_203290.4(POLR1C):c.639C>G (p.His213Gln) rs1251342237 0.00001
NM_203290.4(POLR1C):c.88C>T (p.Pro30Ser) rs1057519455 0.00001
NM_203290.4(POLR1C):c.913C>A (p.His305Asn) rs886061428 0.00001
NM_203290.4(POLR1C):c.938C>T (p.Thr313Met) rs181576159 0.00001
NM_203290.4(POLR1C):c.979A>T (p.Lys327Ter) rs387907020 0.00001
NM_203290.4(POLR1C):c.-21A>G rs190872536
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.374G>A (p.Arg125Gln) rs1793045102
NM_203290.4(POLR1C):c.395G>A (p.Gly132Asp) rs201320592
NM_203290.4(POLR1C):c.525del (p.Thr174_Trp175insTer) rs780663139
NM_203290.4(POLR1C):c.616del (p.Gln206fs) rs1156407486
NM_203290.4(POLR1C):c.70-7G>C rs886061425
NM_203290.4(POLR1C):c.70G>A (p.Val24Ile) rs948560181
NM_203290.4(POLR1C):c.809A>T (p.Lys270Ile) rs745835548
NM_203290.4(POLR1C):c.87del (p.Gly31fs) rs2127686639
NM_203290.4(POLR1C):c.916_920del (p.Tyr306fs) rs767639108
NM_203290.4(POLR1C):c.922+3_922+6del rs1335699710

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