ClinVar Miner

List of variants in gene LOC126862482, POLR2A studied for Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities

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Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_000937.5(POLR2A):c.3869C>G (p.Ser1290Cys)
NM_000937.5(POLR2A):c.3946A>G (p.Asn1316Asp)	rs1303710800
NM_000937.5(POLR2A):c.4164T>G (p.Phe1388Leu)
NM_000937.5(POLR2A):c.4252G>A (p.Gly1418Arg)	rs2070711917

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