ClinVar Miner

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

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Total variants: 18
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HGVS dbSNP gnomAD frequency
NM_001375808.2(LPIN2):c.1510C>T (p.Leu504Phe) rs104895500 0.00253
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.2625G>A (p.Pro875=) rs187572602 0.00025
NM_001375808.2(LPIN2):c.698C>T (p.Thr233Ile) rs139654849 0.00013
NM_001375808.2(LPIN2):c.1888G>A (p.Gly630Ser) rs148607670 0.00006
NM_001375808.2(LPIN2):c.1456+4C>G rs373685201 0.00004
NM_001375808.2(LPIN2):c.1151C>T (p.Ser384Leu) rs765616457 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.2546C>T (p.Ser849Leu) rs1467998402 0.00001
NM_001375808.2(LPIN2):c.847C>T (p.His283Tyr) rs200426834 0.00001
NM_001375808.2(LPIN2):c.151C>T (p.Arg51Trp)
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.968C>T (p.Thr323Ile) rs765953887

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