ClinVar Miner

List of variants in gene POLR3A reported as uncertain significance for Pol III-related leukodystrophy

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Total variants: 7
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HGVS dbSNP
NM_007055.4(POLR3A):c.*1342del rs56144624
NM_007055.4(POLR3A):c.*1640del rs886047277
NM_007055.4(POLR3A):c.*1771_*1780del rs529607825
NM_007055.4(POLR3A):c.*272G>A rs2241547
NM_007055.4(POLR3A):c.1771-5del rs544204280
NM_007055.4(POLR3A):c.318+13G>C rs757027564
NM_007055.4(POLR3A):c.3697C>A (p.Arg1233=) rs576629157

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