ClinVar Miner

List of variants in gene POLR3A reported as likely benign for Hypomyelinating leukodystrophy 7

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Total variants: 24
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HGVS dbSNP
NM_007055.4(POLR3A):c.*135G>T rs531659725
NM_007055.4(POLR3A):c.*136C>T rs568729735
NM_007055.4(POLR3A):c.*1924G>A rs146925988
NM_007055.4(POLR3A):c.*201G>A
NM_007055.4(POLR3A):c.*2039C>T rs114774764
NM_007055.4(POLR3A):c.*339A>G
NM_007055.4(POLR3A):c.*470G>A rs74704054
NM_007055.4(POLR3A):c.*813A>G rs186927032
NM_007055.4(POLR3A):c.*818G>A
NM_007055.4(POLR3A):c.*883T>A rs113075575
NM_007055.4(POLR3A):c.*920T>C rs77590844
NM_007055.4(POLR3A):c.1311A>G (p.Arg437=) rs188441842
NM_007055.4(POLR3A):c.1771-6C>A rs115020338
NM_007055.4(POLR3A):c.1771-7C>T rs201314157
NM_007055.4(POLR3A):c.2031A>G (p.Ala677=) rs562035665
NM_007055.4(POLR3A):c.2196C>T (p.Asn732=) rs148527796
NM_007055.4(POLR3A):c.2472C>T (p.His824=) rs139259717
NM_007055.4(POLR3A):c.2580C>T (p.Asp860=) rs77055595
NM_007055.4(POLR3A):c.2898G>A (p.Leu966=) rs530909493
NM_007055.4(POLR3A):c.3036A>G (p.Glu1012=) rs192102097
NM_007055.4(POLR3A):c.3660G>A (p.Lys1220=) rs141312907
NM_007055.4(POLR3A):c.3734G>A (p.Arg1245Gln) rs143422889
NM_007055.4(POLR3A):c.741G>A (p.Pro247=) rs12764690
NM_007055.4(POLR3A):c.927C>T (p.Asp309=) rs41274610

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