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

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_001375808.2(LPIN2):c.589C>T (p.Arg197Ter)	rs750126005	0.00002
NC_000018.10:g.(?_2921533)_(2938037_?)del
NC_000018.9:g.(?_2921511)_(2938055_?)del
NM_001375808.2(LPIN2):c.1451_1456+6del	rs2077209051
NM_001375808.2(LPIN2):c.1871del (p.Thr624fs)
NM_001375808.2(LPIN2):c.1938+1G>A
NM_001375808.2(LPIN2):c.2086_2087+39del	rs1598522408
NM_001375808.2(LPIN2):c.2442+3_2442+6del	rs2144115996
NM_001375808.2(LPIN2):c.2443-2A>G	rs2144112758
NM_001375808.2(LPIN2):c.288+2T>G	rs2143137428
NM_001375808.2(LPIN2):c.289-1G>T
NM_001375808.2(LPIN2):c.698+1G>A	rs1449758984
NM_001375808.2(LPIN2):c.699-1G>T
NM_001375808.2(LPIN2):c.699-2A>G
NM_001375808.2(LPIN2):c.822+2T>G	rs2144204081

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