ClinVar Miner

List of variants in gene LPIN2 reported as likely pathogenic for bone marrow disorder

Included ClinVar conditions (149):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 16
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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
NM_001375808.2(LPIN2):c.838C>T (p.Arg280Ter) rs759667494

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