ClinVar Miner

List of variants in gene POLR1A studied for auditory system disease

Included ClinVar conditions (549):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 9
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NM_015425.6(POLR1A):c.1511G>A (p.Arg504His) rs142266408
NM_015425.6(POLR1A):c.1777G>C (p.Glu593Gln) rs794729674
NM_015425.6(POLR1A):c.1967T>C (p.Leu656Pro)
NM_015425.6(POLR1A):c.2527C>T (p.Arg843Ter) rs1377622831
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.473G>C (p.Arg158Pro) rs146078741

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