ClinVar Miner

List of variants in gene POLR1A studied for acrofacial dysostosis Cincinnati type

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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_015425.6(POLR1A):c.1258-19A>G rs2288117 0.88485
NM_015425.6(POLR1A):c.448C>G (p.Pro150Ala) rs4832242 0.77586
NM_015425.6(POLR1A):c.77+14C>T rs4832245 0.71646
NM_015425.6(POLR1A):c.678G>A (p.Thr226=) rs2288120 0.69550
NM_015425.6(POLR1A):c.4224G>A (p.Gly1408=) rs2276626 0.67028
NM_015425.6(POLR1A):c.2634+22T>C rs2289239 0.37666
NM_015425.6(POLR1A):c.4273-26A>C rs2278536 0.36818
NM_015425.6(POLR1A):c.473G>C (p.Arg158Pro) rs146078741 0.00557
NM_015425.6(POLR1A):c.1511G>A (p.Arg504His) rs142266408 0.00229
NM_015425.6(POLR1A):c.2527C>T (p.Arg843Ter) rs1377622831 0.00003
NM_015425.6(POLR1A):c.1543C>T (p.Arg515Ter) rs1673257008 0.00001
NM_015425.6(POLR1A):c.1106C>G (p.Ala369Gly)
NM_015425.6(POLR1A):c.190del (p.Cys64fs)
NM_015425.6(POLR1A):c.1967T>C (p.Leu656Pro) rs1673068500
NM_015425.6(POLR1A):c.253C>T (p.Leu85Phe) rs1558788291
NM_015425.6(POLR1A):c.3649del (p.Gln1217fs) rs875989814
NM_015425.6(POLR1A):c.3988_3990del (p.Glu1330del) rs1064794956
NM_015425.6(POLR1A):c.4034+1G>T rs1672543159
NM_015425.6(POLR1A):c.4501C>T (p.Arg1501Trp)
NM_015425.6(POLR1A):c.4685G>T (p.Cys1562Phe) rs1064795108

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