ClinVar Miner

List of variants in gene SLC16A2 studied for X-linked syndromic intellectual disability

Included ClinVar conditions (165):
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Gene type:
ClinVar version:
Total variants: 33
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HGVS dbSNP
NC_000023.11:g.74520998G>A
NM_006517.4(SLC16A2):c.461_463delTCT (p.Phe156del) rs387906501
NM_006517.5(SLC16A2):c.-53A>C rs587784385
NM_006517.5(SLC16A2):c.1026+1G>T rs1555989729
NM_006517.5(SLC16A2):c.1079T>G (p.Leu360Trp) rs104894939
NM_006517.5(SLC16A2):c.1111C>T (p.Arg371Cys) rs587784384
NM_006517.5(SLC16A2):c.1121C>A (p.Ser374Ter) rs104894940
NM_006517.5(SLC16A2):c.1170+4_1170+7del rs1555989846
NM_006517.5(SLC16A2):c.1190T>C (p.Leu397Pro) rs122455132
NM_006517.5(SLC16A2):c.1253T>C (p.Leu418Pro) rs367543059
NM_006517.5(SLC16A2):c.1276_1278TTC[1] (p.Phe427del) rs113994164
NM_006517.5(SLC16A2):c.1313T>C (p.Leu438Pro) rs104894931
NM_006517.5(SLC16A2):c.1390C>T (p.Pro464Ser) rs1363308293
NM_006517.5(SLC16A2):c.1392dup (p.Ile465fs) rs797045962
NM_006517.5(SLC16A2):c.1474_1481del (p.Val492fs) rs797045963
NM_006517.5(SLC16A2):c.1481T>C (p.Leu494Pro) rs104894938
NM_006517.5(SLC16A2):c.1613del (p.Pro538fs) rs113994166
NM_006517.5(SLC16A2):c.256del (p.Arg86fs) rs797045965
NM_006517.5(SLC16A2):c.25G>A (p.Glu9Lys)
NM_006517.5(SLC16A2):c.277C>T (p.Gln93Ter) rs587784386
NM_006517.5(SLC16A2):c.359C>T (p.Ser120Phe) rs113994162
NM_006517.5(SLC16A2):c.374del (p.Tyr125fs) rs797045966
NM_006517.5(SLC16A2):c.449C>A (p.Ala150Glu) rs104894936
NM_006517.5(SLC16A2):c.449C>T (p.Ala150Val) rs104894936
NM_006517.5(SLC16A2):c.532del (p.Ala178fs) rs1555989375
NM_006517.5(SLC16A2):c.873A>T (p.Pro291=) rs12849161
NM_006517.5(SLC16A2):c.916C>T (p.Gln306Ter) rs587784382
NM_006517.5(SLC16A2):c.940C>T (p.Arg314Ter) rs766773277
NM_006517.5(SLC16A2):c.979G>A (p.Gly327Arg) rs587784383
NM_006517.5(SLC16A2):c.97T>C (p.Ser33Pro) rs6647476
SLC16A2, 1-BP DEL, 1212T
SLC16A2, EX1DEL
nsv513796

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