ClinVar Miner

List of variants reported as pathogenic for Majeed syndrome

Included ClinVar conditions (1):
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Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_001375808.2(LPIN2):c.589C>T (p.Arg197Ter) rs750126005 0.00002
NM_001375808.2(LPIN2):c.2201C>T (p.Ser734Leu) rs80338807 0.00001
NC_000018.10:g.(?_2920273)_(2960860_?)del
NC_000018.10:g.(?_2926703)_(2929178_?)del
NC_000018.10:g.(?_2931236)_(2951376_?)del
NC_000018.9:g.(?_2656075)_(2960838_?)del
NM_001375808.2(LPIN2):c.1042_1045delinsGTA (p.Pro348fs) rs2077310320
NM_001375808.2(LPIN2):c.1160_1163del (p.Lys387fs) rs2144194297
NM_001375808.2(LPIN2):c.132_135dup (p.Ser46fs) rs876660982
NM_001375808.2(LPIN2):c.1673G>A (p.Trp558Ter)
NM_001375808.2(LPIN2):c.1684C>T (p.Arg562Ter)
NM_001375808.2(LPIN2):c.1691_1694del (p.Arg564fs) rs771295943
NM_001375808.2(LPIN2):c.1826dup (p.Ser610fs) rs2144133348
NM_001375808.2(LPIN2):c.1843G>T (p.Glu615Ter) rs2144133234
NM_001375808.2(LPIN2):c.1924_1928del (p.Ser642fs) rs2077113045
NM_001375808.2(LPIN2):c.2125A>T (p.Lys709Ter)
NM_001375808.2(LPIN2):c.2327+1G>C rs80338808
NM_001375808.2(LPIN2):c.2342_2346del (p.Lys781fs) rs762442011
NM_001375808.2(LPIN2):c.2495_2496dup (p.Asn833Ter) rs2144112462
NM_001375808.2(LPIN2):c.469C>T (p.Arg157Ter) rs916009547
NM_001375808.2(LPIN2):c.475A>T (p.Arg159Ter)
NM_001375808.2(LPIN2):c.540_541del (p.Thr180_Cys181insTer) rs80338806
NM_001375808.2(LPIN2):c.689del (p.Pro230fs)
NM_001375808.2(LPIN2):c.696del (p.Thr233fs) rs2144209550
NM_001375808.2(LPIN2):c.838C>T (p.Arg280Ter) rs759667494

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