ClinVar Miner

List of variants studied for Allan-Herndon-Dudley syndrome by OMIM

Included ClinVar conditions (1):
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Total variants: 11
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NM_006517.4(SLC16A2):c.461_463delTCT (p.Phe156del) rs387906501
NM_006517.5(SLC16A2):c.1079T>G (p.Leu360Trp) rs104894939
NM_006517.5(SLC16A2):c.1121C>A (p.Ser374Ter) rs104894940
NM_006517.5(SLC16A2):c.1190T>C (p.Leu397Pro) rs122455132
NM_006517.5(SLC16A2):c.1313T>C (p.Leu438Pro) rs104894931
NM_006517.5(SLC16A2):c.1481T>C (p.Leu494Pro) rs104894938
NM_006517.5(SLC16A2):c.1613del (p.Pro538fs) rs113994166
NM_006517.5(SLC16A2):c.449C>T (p.Ala150Val) rs104894936
SLC16A2, 1-BP DEL, 1212T

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