ClinVar Miner

List of variants studied for POLR3-related leukodystrophy

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Total variants: 27
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HGVS dbSNP gnomAD frequency
NM_033022.3(RPS24):c.-109A>G rs3740254 0.03888
NM_018082.5(POLR3B):c.-173C>T rs73186443 0.01232
NM_007055.4(POLR3A):c.1909+22G>A rs191875469 0.00156
NM_033022.4(RPS24):c.-8T>G rs185722293 0.00101
NM_018082.6(POLR3B):c.1244T>C (p.Met415Thr) rs199504211 0.00069
NM_018082.6(POLR3B):c.1568T>A (p.Val523Glu) rs138249161 0.00031
NM_007055.4(POLR3A):c.-103T>A rs117201371 0.00011
NM_007055.4(POLR3A):c.760C>T (p.Arg254Ter) rs141659018 0.00004
NM_018082.6(POLR3B):c.2303G>A (p.Arg768His) rs267608687 0.00004
NM_007055.4(POLR3A):c.3697C>A (p.Arg1233=) rs576629157 0.00003
NM_000180.4(GUCY2D):c.2303G>A (p.Arg768Gln) rs750889782 0.00001
NM_007055.4(POLR3A):c.2015G>A (p.Gly672Glu) rs267608670 0.00001
NM_018082.6(POLR3B):c.2278G>A (p.Ala760Thr) rs146513209 0.00001
NM_018082.6(POLR3B):c.2413C>T (p.Arg805Ter) rs1437442253 0.00001
NM_018082.6(POLR3B):c.478G>A (p.Glu160Lys) rs749479456 0.00001
NC_000010.10:g.(79779024_79781303)_(79782143_79784306)del
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.1771-7C>G rs201314157
NM_007055.4(POLR3A):c.2100del (p.Ile700fs)
NM_007055.4(POLR3A):c.318+13G>C rs757027564
NM_018082.5(POLR3B):c.-186C>A rs886048895
NM_018082.6(POLR3B):c.1121A>G (p.Glu374Gly) rs2037451909
NM_018082.6(POLR3B):c.2974G>A (p.Gly992Ser)

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