ClinVar Miner

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

Included ClinVar conditions (1):
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Gene type:
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Total variants: 19
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HGVS dbSNP
NM_014646.2(LPIN2):c.*2934C>T rs7980
NM_014646.2(LPIN2):c.*3068A>T rs1985
NM_014646.2(LPIN2):c.*3139A>G rs1164
NM_014646.2(LPIN2):c.*3C>T rs3745012
NM_014646.2(LPIN2):c.*657A>C rs16944040
NM_014646.2(LPIN2):c.*685T>A rs607549
NM_014646.2(LPIN2):c.*947dup rs3840906
NM_014646.2(LPIN2):c.1043C>T (p.Pro348Leu) rs34676691
NM_014646.2(LPIN2):c.1159A>G (p.Lys387Glu) rs104895501
NM_014646.2(LPIN2):c.1169-7del rs746626720
NM_014646.2(LPIN2):c.120T>C (p.Asp40=) rs143261167
NM_014646.2(LPIN2):c.147C>T (p.His49=) rs17886056
NM_014646.2(LPIN2):c.1735T>C (p.Ser579Pro) rs150022314
NM_014646.2(LPIN2):c.1801G>A (p.Glu601Lys) rs61735393
NM_014646.2(LPIN2):c.1867C>T (p.Pro623Ser) rs143090653
NM_014646.2(LPIN2):c.1876C>T (p.Pro626Ser) rs150806357
NM_014646.2(LPIN2):c.2223C>T (p.Ala741=) rs17555442
NM_014646.2(LPIN2):c.590+6A>G rs73375280
NM_014646.2(LPIN2):c.991G>T (p.Ala331Ser) rs80338805

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