List of variants in gene POLR3A reported as pathogenic for POLR-related leukodystrophy

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_007055.4(POLR3A):c.1909+22G>A	rs191875469	0.00156
NM_007055.4(POLR3A):c.760C>T (p.Arg254Ter)	rs141659018	0.00004
NM_007055.4(POLR3A):c.2015G>A (p.Gly672Glu)	rs267608670	0.00001
NC_000010.10:g.(79779024_79781303)_(79782143_79784306)del
NM_007055.4(POLR3A):c.1771-7C>G	rs201314157
NM_007055.4(POLR3A):c.2100del (p.Ile700fs)

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