ClinVar Miner

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

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 41
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HGVS dbSNP gnomAD frequency
NM_173842.3(IL1RN):c.390T>C (p.Ser130=) rs315952 0.34551
NM_001375808.2(LPIN2):c.*3C>T rs3745012 0.26634
NM_173842.3(IL1RN):c.171T>C (p.Ala57=) rs419598 0.21244
NM_173841.3(IL1RN):c.73+8A>C rs878972 0.20572
NM_173842.3(IL1RN):c.205+242C>T rs2071459 0.17798
NM_001375808.2(LPIN2):c.1168+11G>C rs79439091 0.02576
NM_173842.3(IL1RN):c.459C>T (p.Asp153=) rs4252023 0.01650
NM_173842.3(IL1RN):c.116+5G>A rs4252004 0.01392
NM_001375808.2(LPIN2):c.2223C>T (p.Ala741=) rs17555442 0.01175
NM_001375808.2(LPIN2):c.1867C>T (p.Pro623Ser) rs143090653 0.00873
NM_001375808.2(LPIN2):c.1801G>A (p.Glu601Lys) rs61735393 0.00824
NM_001375808.2(LPIN2):c.147C>T (p.His49=) rs17886056 0.00707
NM_001375808.2(LPIN2):c.590+6A>G rs73375280 0.00505
NM_001375808.2(LPIN2):c.2174+17_2174+18insAT rs368009098 0.00452
NM_173842.3(IL1RN):c.465C>T (p.Pro155=) rs2232355 0.00435
NM_001375808.2(LPIN2):c.120T>C (p.Asp40=) rs143261167 0.00243
NM_001375808.2(LPIN2):c.2327+11G>A rs148930095 0.00240
NM_001375808.2(LPIN2):c.1735T>C (p.Ser579Pro) rs150022314 0.00221
NM_001375808.2(LPIN2):c.1410C>T (p.Thr470=) rs35932462 0.00159
NM_173842.3(IL1RN):c.318+19T>G rs4252017 0.00111
NM_173842.3(IL1RN):c.370G>A (p.Ala124Thr) rs45507693 0.00097
NM_001375808.2(LPIN2):c.1159A>G (p.Lys387Glu) rs104895501 0.00083
NM_001375808.2(LPIN2):c.1876C>T (p.Pro626Ser) rs150806357 0.00083
NM_173841.3(IL1RN):c.73+19C>T rs370592421 0.00073
NM_173842.3(IL1RN):c.237T>C (p.His79=) rs140088036 0.00073
NM_173842.3(IL1RN):c.69G>A (p.Thr23=) rs2232353 0.00055
NM_001375808.2(LPIN2):c.1043C>T (p.Pro348Leu) rs34676691 0.00051
NM_001375808.2(LPIN2):c.2625G>A (p.Pro875=) rs187572602 0.00025
NM_001375808.2(LPIN2):c.2328-13A>T rs199830303 0.00017
NM_001375808.2(LPIN2):c.289-16C>T rs759180126 0.00010
NM_001375808.2(LPIN2):c.608C>T (p.Ser203Phe) rs144555528 0.00006
NM_001375808.2(LPIN2):c.2088-11C>T rs553605811 0.00005
NM_173842.3(IL1RN):c.319-17C>T rs200314326 0.00002
NM_001375808.2(LPIN2):c.1722C>T (p.Ser574=) rs144282017 0.00001
NM_001375808.2(LPIN2):c.1169-7del rs746626720
NM_001375808.2(LPIN2):c.1169-7dup rs746626720
NM_001375808.2(LPIN2):c.2328-6dup
NM_001375808.2(LPIN2):c.2621G>T (p.Cys874Phe) rs201160155
NM_001375808.2(LPIN2):c.699-13_699-12dup rs775605400
NM_173842.3(IL1RN):c.206-16del
NM_173842.3(IL1RN):c.318+12C>G rs561872655

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