ClinVar Miner

List of variants studied for Neurodevelopmental disorder with hypotonia and variable intellectual and behavioral abnormalities by Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine

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Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_000937.5(POLR2A):c.1314_1319del (p.His439_Leu440del) rs2070546216
NM_000937.5(POLR2A):c.323G>A (p.Arg108His) rs762784138
NM_000937.5(POLR2A):c.3275C>T (p.Ala1092Val) rs2070664416
NM_000937.5(POLR2A):c.3281C>T (p.Ser1094Phe) rs775858617
NM_000937.5(POLR2A):c.3407C>T (p.Thr1136Ile) rs2070665204
NM_000937.5(POLR2A):c.3752A>G (p.Asn1251Ser) rs2070680579
NM_000937.5(POLR2A):c.418C>T (p.Arg140Trp) rs1329988533
NM_000937.5(POLR2A):c.4252G>A (p.Gly1418Arg) rs2070711917
NM_000937.5(POLR2A):c.5440_5441del (p.Gln1814fs) rs778071890
NM_000937.5(POLR2A):c.83C>G (p.Pro28Arg) rs1388837601

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