ClinVar Miner

List of variants reported as pathogenic for chronic recurrent multifocal osteomyelitis by Invitae

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 28
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HGVS dbSNP gnomAD frequency
NM_001375808.2(LPIN2):c.589C>T (p.Arg197Ter) rs750126005 0.00002
NM_173842.3(IL1RN):c.229G>T (p.Glu77Ter) rs121913161 0.00001
NC_000002.11:g.(?_113817016)_(113890448_?)del
NC_000002.12:g.(?_113116893)_(113135016_?)del
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.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.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.689del (p.Pro230fs)
NM_001375808.2(LPIN2):c.838C>T (p.Arg280Ter) rs759667494
NM_173841.3(IL1RN):c.25G>T (p.Glu9Ter)
NM_173841.3(IL1RN):c.52G>T (p.Glu18Ter)
NM_173842.3(IL1RN):c.133C>T (p.Gln45Ter)
NM_173842.3(IL1RN):c.156_157del (p.Asn52fs) rs672601268
NM_173842.3(IL1RN):c.213_227del (p.Asp72_Ile76del) rs1340890598

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