ClinVar Miner

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

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Total variants: 58
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HGVS dbSNP gnomAD frequency
NM_001375808.2(LPIN2):c.1168+44T>C rs3826637 0.31167
NM_001375808.2(LPIN2):c.*3C>T rs3745012 0.26634
NM_001375808.2(LPIN2):c.1456+29A>G rs16944068 0.03261
NM_001375808.2(LPIN2):c.1168+11G>C rs79439091 0.02576
NM_001375808.2(LPIN2):c.2223C>T (p.Ala741=) rs17555442 0.01175
NM_001375808.2(LPIN2):c.1867C>T (p.Pro623Ser) rs143090653 0.00873
NM_001375808.2(LPIN2):c.1801G>A (p.Glu601Lys) rs61735393 0.00824
NM_001375808.2(LPIN2):c.-10+1313C>T rs116643915 0.00793
NM_001375808.2(LPIN2):c.147C>T (p.His49=) rs17886056 0.00707
NM_001375808.2(LPIN2):c.590+6A>G rs73375280 0.00505
NM_001375808.2(LPIN2):c.1510C>T (p.Leu504Phe) rs104895500 0.00253
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.1159A>G (p.Lys387Glu) rs104895501 0.00083
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.446C>T (p.Pro149Leu) rs147615538 0.00038
NM_001375808.2(LPIN2):c.1781C>T (p.Pro594Leu) rs139826951 0.00025
NM_001375808.2(LPIN2):c.2610C>T (p.Ser870=) rs145412418 0.00025
NM_001375808.2(LPIN2):c.2625G>A (p.Pro875=) rs187572602 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.698C>T (p.Thr233Ile) rs139654849 0.00013
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.1888G>A (p.Gly630Ser) rs148607670 0.00006
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.1456+4C>G rs373685201 0.00004
NM_001375808.2(LPIN2):c.1797G>A (p.Pro599=) rs772568696 0.00004
NM_001375808.2(LPIN2):c.1151C>T (p.Ser384Leu) rs765616457 0.00003
NM_001375808.2(LPIN2):c.2316C>T (p.Ser772=) rs145270447 0.00003
NM_001375808.2(LPIN2):c.1487A>G (p.His496Arg) rs759229367 0.00002
NM_001375808.2(LPIN2):c.1616C>G (p.Pro539Arg) rs139768435 0.00002
NM_001375808.2(LPIN2):c.1144G>A (p.Val382Ile) rs1486044509 0.00001
NM_001375808.2(LPIN2):c.2443-4G>A rs374426227 0.00001
NM_001375808.2(LPIN2):c.2546C>T (p.Ser849Leu) rs1467998402 0.00001
NM_001375808.2(LPIN2):c.847C>T (p.His283Tyr) rs200426834 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.151C>T (p.Arg51Trp)
NM_001375808.2(LPIN2):c.1710+16G>A rs2077155215
NM_001375808.2(LPIN2):c.1716A>G (p.Pro572=) rs2077138820
NM_001375808.2(LPIN2):c.1786G>A (p.Gly596Ser)
NM_001375808.2(LPIN2):c.2621G>T (p.Cys874Phe) rs201160155
NM_001375808.2(LPIN2):c.631G>C (p.Glu211Gln)
NM_001375808.2(LPIN2):c.698+20_698+22del rs778249776
NM_001375808.2(LPIN2):c.840A>G (p.Arg280=) rs780138552
NM_001375808.2(LPIN2):c.968C>T (p.Thr323Ile) rs765953887

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