ClinVar Miner

List of variants reported as likely benign for Majeed syndrome by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

Included ClinVar conditions (1):
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Total variants: 11
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HGVS dbSNP
NM_014646.2(LPIN2):c.-66C>T rs116643915
NM_014646.2(LPIN2):c.1122A>G (p.Ser374=) rs748347465
NM_014646.2(LPIN2):c.1169-7del rs746626720
NM_014646.2(LPIN2):c.1797G>A (p.Pro599=) rs772568696
NM_014646.2(LPIN2):c.1939-14T>C
NM_014646.2(LPIN2):c.2088-7T>G rs199713353
NM_014646.2(LPIN2):c.2445T>C (p.Asp815=) rs140249737
NM_014646.2(LPIN2):c.2568C>T (p.Leu856=) rs149862905
NM_014646.2(LPIN2):c.2610C>T (p.Ser870=) rs145412418
NM_014646.2(LPIN2):c.608C>T (p.Ser203Phe) rs144555528
NM_014646.2(LPIN2):c.840A>G (p.Arg280=)

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