List of variants in gene SLC52A3 studied for Progressive bulbar palsy of childhood

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

Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_033409.4(SLC52A3):c.1197+106A>G	rs6054589	0.85215
NM_033409.4(SLC52A3):c.568-200T>C	rs6133374	0.82884
NM_033409.4(SLC52A3):c.1233T>C (p.Ser411=)	rs910857	0.68551
NM_033409.4(SLC52A3):c.1197+108C>T	rs3746801	0.47446
NM_033409.4(SLC52A3):c.765C>T (p.Leu255=)	rs3746805	0.37656
NM_033409.4(SLC52A3):c.321C>T (p.Ala107=)	rs3746808	0.26517
NM_033409.4(SLC52A3):c.58A>C (p.Ile20Leu)	rs148387972	0.00010
NM_033409.4(SLC52A3):c.106G>A (p.Glu36Lys)	rs267606686	0.00001
NM_033409.4(SLC52A3):c.-14_-6del	rs11467076
NM_033409.4(SLC52A3):c.1073+92T>C	rs8122335
NM_033409.4(SLC52A3):c.1198-2A>C	rs754753126
NM_033409.4(SLC52A3):c.446G>A (p.Gly149Asp)	rs749668781
NM_033409.4(SLC52A3):c.639C>G (p.Tyr213Ter)	rs778363575
NM_033409.4(SLC52A3):c.71G>A (p.Trp24Ter)	rs1599959574

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