ClinVar Miner

List of variants studied for Allan-Herndon-Dudley syndrome by Genetic Services Laboratory, University of Chicago

Included ClinVar conditions (1):
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Total variants: 14
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HGVS dbSNP
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.1111C>T (p.Arg371Cys) rs587784384
NM_006517.5(SLC16A2):c.1392dup (p.Ile465fs) rs797045962
NM_006517.5(SLC16A2):c.1474_1481del (p.Val492fs) rs797045963
NM_006517.5(SLC16A2):c.256del (p.Arg86fs) rs797045965
NM_006517.5(SLC16A2):c.277C>T (p.Gln93Ter) rs587784386
NM_006517.5(SLC16A2):c.374del (p.Tyr125fs) rs797045966
NM_006517.5(SLC16A2):c.449C>A (p.Ala150Glu) rs104894936
NM_006517.5(SLC16A2):c.532del (p.Ala178fs) rs1555989375
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

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