ClinVar Miner

List of variants studied for Majeed syndrome by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

Included ClinVar conditions (1):
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Total variants: 28
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HGVS dbSNP
NM_014646.2(LPIN2):c.*3C>T rs3745012
NM_014646.2(LPIN2):c.-66C>T rs116643915
NM_014646.2(LPIN2):c.1043C>T (p.Pro348Leu) rs34676691
NM_014646.2(LPIN2):c.1122A>G (p.Ser374=) rs748347465
NM_014646.2(LPIN2):c.1159A>G (p.Lys387Glu) rs104895501
NM_014646.2(LPIN2):c.1168+44T>C rs3826637
NM_014646.2(LPIN2):c.1169-7del rs746626720
NM_014646.2(LPIN2):c.1456+29A>G
NM_014646.2(LPIN2):c.1456+4C>G rs373685201
NM_014646.2(LPIN2):c.1510C>T (p.Leu504Phe) rs104895500
NM_014646.2(LPIN2):c.1735T>C (p.Ser579Pro) rs150022314
NM_014646.2(LPIN2):c.1797G>A (p.Pro599=) rs772568696
NM_014646.2(LPIN2):c.1801G>A (p.Glu601Lys) rs61735393
NM_014646.2(LPIN2):c.1867C>T (p.Pro623Ser) rs143090653
NM_014646.2(LPIN2):c.1876C>T (p.Pro626Ser) rs150806357
NM_014646.2(LPIN2):c.1939-14T>C
NM_014646.2(LPIN2):c.2088-7T>G rs199713353
NM_014646.2(LPIN2):c.2174+16_2174+17insAT
NM_014646.2(LPIN2):c.2223C>T (p.Ala741=) rs17555442
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.446C>T (p.Pro149Leu) rs147615538
NM_014646.2(LPIN2):c.608C>T (p.Ser203Phe) rs144555528
NM_014646.2(LPIN2):c.698C>T (p.Thr233Ile) rs139654849
NM_014646.2(LPIN2):c.840A>G (p.Arg280=)
NM_014646.2(LPIN2):c.847C>T (p.His283Tyr)
NM_014646.2(LPIN2):c.991G>T (p.Ala331Ser) rs80338805

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