ClinVar Miner

List of variants reported as likely benign for Majeed syndrome by Illumina Laboratory Services, Illumina

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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_001375808.2(LPIN2):c.1801G>A (p.Glu601Lys) rs61735393 0.00824
NM_001375808.2(LPIN2):c.*358G>A rs184193388 0.00608
NM_001375808.2(LPIN2):c.*2553G>A rs149332969 0.00440
NM_001375808.2(LPIN2):c.*1586G>A rs144299426 0.00382
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.*1147A>G rs139015163 0.00215
NM_001375808.2(LPIN2):c.*2076C>A rs112529707 0.00137
NM_001375808.2(LPIN2):c.*1077C>G rs563088438 0.00121
NM_001375808.2(LPIN2):c.*850G>A rs73375250 0.00106
NM_001375808.2(LPIN2):c.1159A>G (p.Lys387Glu) rs104895501 0.00083
NM_001375808.2(LPIN2):c.*158G>A rs547872442 0.00058
NM_001375808.2(LPIN2):c.*151G>A rs571000282 0.00056
NM_001375808.2(LPIN2):c.*2103G>A rs561577089 0.00056
NM_001375808.2(LPIN2):c.1043C>T (p.Pro348Leu) rs34676691 0.00051
NM_001375808.2(LPIN2):c.*2390C>T rs555969171 0.00025
NM_001375808.2(LPIN2):c.2625G>A (p.Pro875=) rs187572602 0.00025
NM_001375808.2(LPIN2):c.*1179G>A rs147362027
NM_001375808.2(LPIN2):c.*2197_*2198del rs55834965
NM_001375808.2(LPIN2):c.*2924del rs148191039
NM_001375808.2(LPIN2):c.2621G>T (p.Cys874Phe) rs201160155

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