ClinVar Miner

List of variants in gene LPIN2 reported as not provided for Majeed syndrome

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Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_001375808.2(LPIN2):c.2223C>T (p.Ala741=) rs17555442 0.01175
NM_001375808.2(LPIN2):c.1510C>T (p.Leu504Phe) rs104895500 0.00253
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.1043C>T (p.Pro348Leu) rs34676691 0.00051
NM_001375808.2(LPIN2):c.2671G>A (p.Asp891Asn) rs200648652 0.00034
NM_001375808.2(LPIN2):c.2201C>T (p.Ser734Leu) rs80338807 0.00001
NM_001375808.2(LPIN2):c.10G>T (p.Val4Leu) rs2143203306
NM_001375808.2(LPIN2):c.1316_1317del (p.Ser439fs) rs318240736
NM_001375808.2(LPIN2):c.2327+1G>C rs80338808
NM_001375808.2(LPIN2):c.540_541del (p.Thr180_Cys181insTer) rs80338806

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