ClinVar Miner

List of variants in gene SLC1A2 studied for electroclinical syndrome

Included ClinVar conditions (101):
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Gene type:
ClinVar version:
Total variants: 45
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HGVS dbSNP gnomAD frequency
NM_004171.4(SLC1A2):c.731-8T>C rs2273689 0.55092
NM_004171.4(SLC1A2):c.1221A>G (p.Val407=) rs1042113 0.26392
NM_004171.4(SLC1A2):c.603G>A (p.Pro201=) rs752949 0.22188
NM_004171.4(SLC1A2):c.562-36T>C rs3895234 0.22153
NM_004171.4(SLC1A2):c.311-37A>G rs10836370 0.20991
NM_004171.4(SLC1A2):c.157+31C>G rs2273687 0.19605
NM_004171.4(SLC1A2):c.92G>A (p.Arg31Gln) rs199599866 0.00020
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.1493A>G (p.Lys498Arg)
NM_004171.4(SLC1A2):c.1601C>A (p.Ser534Tyr)
NM_004171.4(SLC1A2):c.1625A>G (p.His542Arg)
NM_004171.4(SLC1A2):c.1639G>A (p.Val547Ile)
NM_004171.4(SLC1A2):c.1684G>A (p.Asp562Asn)
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.244G>A (p.Gly82Arg) rs886037942
NM_004171.4(SLC1A2):c.244G>C (p.Gly82Arg) rs886037942
NM_004171.4(SLC1A2):c.254T>C (p.Leu85Pro) rs886037943
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.689T>C (p.Ile230Thr)
NM_004171.4(SLC1A2):c.746del (p.Phe249fs)
NM_004171.4(SLC1A2):c.758G>T (p.Gly253Val)
NM_004171.4(SLC1A2):c.777G>A (p.Met259Ile)
NM_004171.4(SLC1A2):c.827T>G (p.Ile276Ser)
NM_004171.4(SLC1A2):c.866C>G (p.Pro289Arg) rs781379291
NM_004171.4(SLC1A2):c.872G>T (p.Gly291Val)

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