ClinVar Miner

List of variants reported as uncertain significance for polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly

Included ClinVar conditions (2):
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ClinVar version:
Total variants: 35
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HGVS dbSNP gnomAD frequency
NM_003332.4(TYROBP):c.-34C>T rs199931680 0.00152
NM_018965.4(TREM2):c.259G>A (p.Asp87Asn) rs142232675 0.00152
NM_003332.4(TYROBP):c.46C>T (p.Leu16=) rs147393700 0.00121
NM_018965.4(TREM2):c.399G>T (p.Leu133=) rs144250872 0.00095
NM_003332.4(TYROBP):c.*85C>T rs374144427 0.00071
NM_003332.4(TYROBP):c.*103T>A rs777094340 0.00032
NM_018965.4(TREM2):c.451G>A (p.Glu151Lys) rs79011726 0.00026
NM_018965.4(TREM2):c.40+13C>T rs145658858 0.00016
NM_018965.4(TREM2):c.690G>A (p.Thr230=) rs199795809 0.00015
NM_018965.3(TREM2):c.-98C>T rs558304800 0.00011
NM_018965.4(TREM2):c.393C>T (p.Asp131=) rs139607688 0.00010
NM_018965.4(TREM2):c.574G>A (p.Ala192Thr) rs150277350 0.00010
NM_003332.4(TYROBP):c.-50G>A rs371441146 0.00008
NM_018965.4(TREM2):c.*156G>T rs768583708 0.00007
NM_003332.4(TYROBP):c.140T>C (p.Val47Ala) rs372140827 0.00006
NM_018965.4(TREM2):c.*148C>T rs761884997 0.00005
NM_018965.4(TREM2):c.117C>G (p.Asp39Glu) rs200392967 0.00005
NM_018965.4(TREM2):c.486C>G (p.Ser162Arg) rs371702633 0.00005
NM_003332.4(TYROBP):c.*5G>A rs372703196 0.00004
NM_003332.4(TYROBP):c.111G>A (p.Thr37=) rs200694727 0.00004
NM_003332.4(TYROBP):c.*154T>C rs554715202 0.00003
NM_003332.4(TYROBP):c.112G>A (p.Val38Met) rs199970556 0.00001
NM_003332.4(TYROBP):c.180C>G (p.Ala60=) rs199583341 0.00001
NM_003332.4(TYROBP):c.230-3C>T rs779491857 0.00001
NM_018965.3(TREM2):c.-51G>A rs3747741 0.00001
NM_018965.4(TREM2):c.*111A>G rs753777378 0.00001
NM_018965.4(TREM2):c.*157G>A rs1232354245 0.00001
NM_018965.4(TREM2):c.115G>A (p.Asp39Asn) rs764816591 0.00001
NM_018965.4(TREM2):c.482+7C>T rs746496916 0.00001
NM_018965.4(TREM2):c.203A>T (p.Asn68Ile)
NM_018965.4(TREM2):c.254C>T (p.Thr85Ile) rs368255898
NM_018965.4(TREM2):c.292C>T (p.Arg98Trp) rs147564421
NM_018965.4(TREM2):c.346A>T (p.Ser116Cys) rs2113879950
NM_018965.4(TREM2):c.401A>G (p.Asp134Gly) rs28939079
NM_018965.4(TREM2):c.558G>T (p.Lys186Asn) rs28937876

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