ClinVar Miner

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

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Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_001375808.2(LPIN2):c.-10+1313C>T rs116643915 0.00793
NM_001375808.2(LPIN2):c.1735T>C (p.Ser579Pro) rs150022314 0.00221
NM_001375808.2(LPIN2):c.-10+1381T>C rs566304730 0.00176
NM_001375808.2(LPIN2):c.1410C>T (p.Thr470=) rs35932462 0.00159
NM_001375808.2(LPIN2):c.991G>T (p.Ala331Ser) rs80338805 0.00142
NM_001375808.2(LPIN2):c.1876C>T (p.Pro626Ser) rs150806357 0.00083
NM_001375808.2(LPIN2):c.1043C>T (p.Pro348Leu) rs34676691 0.00051
NM_001375808.2(LPIN2):c.2568C>T (p.Leu856=) rs149862905 0.00045
NM_001375808.2(LPIN2):c.2610C>T (p.Ser870=) rs145412418 0.00025
NM_001375808.2(LPIN2):c.2445T>C (p.Asp815=) rs140249737 0.00021
NM_001375808.2(LPIN2):c.2328-13A>T rs199830303 0.00017
NM_001375808.2(LPIN2):c.1793+17C>T rs188429587 0.00016
NM_001375808.2(LPIN2):c.2535A>C (p.Gly845=) rs186864136 0.00012
NM_001375808.2(LPIN2):c.2088-7T>G rs199713353 0.00011
NM_001375808.2(LPIN2):c.591-20C>G rs370548322 0.00007
NM_001375808.2(LPIN2):c.608C>T (p.Ser203Phe) rs144555528 0.00006
NM_001375808.2(LPIN2):c.858G>A (p.Arg286=) rs548077620 0.00006
NM_001375808.2(LPIN2):c.1939-14T>C rs370284164 0.00005
NM_001375808.2(LPIN2):c.1122A>G (p.Ser374=) rs748347465 0.00004
NM_001375808.2(LPIN2):c.1281C>T (p.Pro427=) rs778559792 0.00004
NM_001375808.2(LPIN2):c.1797G>A (p.Pro599=) rs772568696 0.00004
NM_001375808.2(LPIN2):c.2316C>T (p.Ser772=) rs145270447 0.00003
NM_001375808.2(LPIN2):c.2443-4G>A rs374426227 0.00001
NM_001375808.2(LPIN2):c.54C>A (p.Leu18=) rs753729438 0.00001
NM_001375808.2(LPIN2):c.1169-7del rs746626720
NM_001375808.2(LPIN2):c.1169-7dup rs746626720
NM_001375808.2(LPIN2):c.1356A>G (p.Ala452=) rs2144161943
NM_001375808.2(LPIN2):c.1710+16G>A rs2077155215
NM_001375808.2(LPIN2):c.1716A>G (p.Pro572=) rs2077138820
NM_001375808.2(LPIN2):c.698+20_698+22del rs778249776
NM_001375808.2(LPIN2):c.840A>G (p.Arg280=) rs780138552

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