ClinVar Miner

List of variants in gene POLR1A reported as pathogenic for congenital limb malformation

Included ClinVar conditions (335):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_015425.6(POLR1A):c.2527C>T (p.Arg843Ter) rs1377622831 0.00003
NM_015425.6(POLR1A):c.3649del (p.Gln1217fs) rs875989814
NM_015425.6(POLR1A):c.3988_3990del (p.Glu1330del) rs1064794956
NM_015425.6(POLR1A):c.4685G>T (p.Cys1562Phe) rs1064795108

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