ClinVar Miner

List of variants in gene LPIN2 reported as pathogenic for Majeed syndrome

Included ClinVar conditions (1):
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Total variants: 10
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NM_014646.2(LPIN2):c.1312_1313CT[2] (p.Ser439fs) rs318240736
NM_014646.2(LPIN2):c.1924_1928del (p.Ser642fs)
NM_014646.2(LPIN2):c.2201C>T (p.Ser734Leu) rs80338807
NM_014646.2(LPIN2):c.2327+1G>C rs80338808
NM_014646.2(LPIN2):c.469C>T (p.Arg157Ter) rs916009547
NM_014646.2(LPIN2):c.540_541del (p.Thr180_Cys181insTer) rs80338806
NM_014646.2(LPIN2):c.589C>T (p.Arg197Ter) rs750126005

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