ClinVar Miner

List of variants in gene POLR3A reported as pathogenic for not provided

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Total variants: 17
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HGVS dbSNP
NM_007055.4(POLR3A):c.1011G>A (p.Trp337Ter)
NM_007055.4(POLR3A):c.1740dup (p.Val581fs) rs781745727
NM_007055.4(POLR3A):c.1771-6C>G
NM_007055.4(POLR3A):c.1771-7C>G rs201314157
NM_007055.4(POLR3A):c.1896_1897del (p.Ala633fs)
NM_007055.4(POLR3A):c.1909+18G>A rs267608677
NM_007055.4(POLR3A):c.1909+22G>A rs191875469
NM_007055.4(POLR3A):c.2005C>T (p.Arg669Ter) rs774007232
NM_007055.4(POLR3A):c.2378C>G (p.Ser793Ter)
NM_007055.4(POLR3A):c.2617-1G>A rs181087667
NM_007055.4(POLR3A):c.2617C>T (p.Arg873Ter) rs148932047
NM_007055.4(POLR3A):c.3291T>G (p.Tyr1097Ter) rs760408755
NM_007055.4(POLR3A):c.3944_3945del (p.Val1315fs)
NM_007055.4(POLR3A):c.418C>T (p.Arg140Ter) rs267608678
NM_007055.4(POLR3A):c.491-2A>G rs886041636
NM_007055.4(POLR3A):c.601del (p.Ile201fs) rs777280350
NM_007055.4(POLR3A):c.91C>T (p.Gln31Ter)

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