List of variants in gene SLC1A2 reported as uncertain significance for electroclinical syndrome

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Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 27

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HGVS	dbSNP	gnomAD frequency
NM_004171.4(SLC1A2):c.344G>A (p.Arg115His)	rs200754925	0.00006
NM_004171.4(SLC1A2):c.107G>A (p.Arg36His)	rs980878522	0.00001
NM_004171.4(SLC1A2):c.1225G>A (p.Ala409Thr)	rs1022532582	0.00001
NM_004171.4(SLC1A2):c.877G>A (p.Ala293Thr)	rs956332291	0.00001
NM_004171.4(SLC1A2):c.1003A>G (p.Ile335Val)
NM_004171.4(SLC1A2):c.1046C>T (p.Ala349Val)	rs1851035772
NM_004171.4(SLC1A2):c.1079G>C (p.Gly360Ala)
NM_004171.4(SLC1A2):c.1154_1155del (p.Val385fs)
NM_004171.4(SLC1A2):c.1295C>A (p.Ala432Asp)
NM_004171.4(SLC1A2):c.139C>G (p.Leu47Val)	rs1851917611
NM_004171.4(SLC1A2):c.1601C>A (p.Ser534Tyr)
NM_004171.4(SLC1A2):c.1639G>A (p.Val547Ile)
NM_004171.4(SLC1A2):c.1715G>A (p.Arg572His)
NM_004171.4(SLC1A2):c.193C>T (p.Arg65Cys)	rs1326870463
NM_004171.4(SLC1A2):c.236C>A (p.Ala79Asp)
NM_004171.4(SLC1A2):c.257T>A (p.Met86Lys)
NM_004171.4(SLC1A2):c.260G>A (p.Arg87Lys)
NM_004171.4(SLC1A2):c.304A>G (p.Ile102Val)	rs2134887083
NM_004171.4(SLC1A2):c.389T>C (p.Ile130Thr)	rs1851734643
NM_004171.4(SLC1A2):c.456G>C (p.Gln152His)
NM_004171.4(SLC1A2):c.469A>G (p.Lys157Glu)	rs1851730752
NM_004171.4(SLC1A2):c.555T>A (p.Phe185Leu)	rs751782700
NM_004171.4(SLC1A2):c.607G>A (p.Glu203Lys)	rs1400780690
NM_004171.4(SLC1A2):c.609G>C (p.Glu203Asp)	rs1851499526
NM_004171.4(SLC1A2):c.626G>A (p.Ser209Asn)
NM_004171.4(SLC1A2):c.758G>T (p.Gly253Val)
NM_004171.4(SLC1A2):c.777G>A (p.Met259Ile)

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