ClinVar Miner

List of variants in gene POLR3A reported as pathogenic by GeneDx

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Total variants: 7
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HGVS dbSNP
NM_007055.4(POLR3A):c.1740dup (p.Val581fs) rs781745727
NM_007055.4(POLR3A):c.1909+22G>A rs191875469
NM_007055.4(POLR3A):c.2005C>T (p.Arg669Ter) rs774007232
NM_007055.4(POLR3A):c.2617-1G>A rs181087667
NM_007055.4(POLR3A):c.3291T>G (p.Tyr1097Ter) rs760408755
NM_007055.4(POLR3A):c.491-2A>G rs886041636
NM_007055.4(POLR3A):c.601del (p.Ile201fs) rs777280350

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