ClinVar Miner

List of variants studied for polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy 1

Included ClinVar conditions (2):
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Total variants: 42
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HGVS dbSNP gnomAD frequency
NM_003332.4(TYROBP):c.*25A>C rs1802029 0.07474
NM_018965.4(TREM2):c.632T>C (p.Leu211Pro) rs2234256 0.04010
NM_003332.4(TYROBP):c.*83C>T rs14715 0.01070
NM_003332.4(TYROBP):c.163G>T (p.Val55Leu) rs77782321 0.00810
NM_018965.4(TREM2):c.185G>A (p.Arg62His) rs143332484 0.00714
NM_003332.4(TYROBP):c.94+10G>C rs55746266 0.00630
NM_003332.4(TYROBP):c.*140T>C rs113207157 0.00500
NM_003332.4(TYROBP):c.-34C>T rs199931680 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.68G>A (p.Arg23His) rs79272253 0.00061
NM_003332.4(TYROBP):c.*103T>A rs777094340 0.00032
NM_003332.4(TYROBP):c.-50G>A rs371441146 0.00008
NM_003332.4(TYROBP):c.140T>C (p.Val47Ala) rs372140827 0.00006
NM_003332.4(TYROBP):c.*5G>A rs372703196 0.00004
NM_003332.4(TYROBP):c.111G>A (p.Thr37=) rs200694727 0.00004
NM_018965.4(TREM2):c.197C>T (p.Thr66Met) rs201258663 0.00004
NM_003332.4(TYROBP):c.*154T>C rs554715202 0.00003
NM_018965.4(TREM2):c.514C>T (p.Pro172Ser) rs781302866 0.00003
NM_018965.4(TREM2):c.97C>T (p.Gln33Ter) rs104894002 0.00002
NM_003332.4(TYROBP):c.112G>A (p.Val38Met) rs199970556 0.00001
NM_003332.4(TYROBP):c.141del (p.Met48fs) rs386833840 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_018965.4(TREM2):c.*111A>G rs753777378 0.00001
NM_018965.4(TREM2):c.233G>A (p.Trp78Ter) rs104893998 0.00001
NM_018965.4(TREM2):c.313del (p.Ala105fs) rs386834141 0.00001
NM_018965.4(TREM2):c.377T>G (p.Val126Gly) rs121908402 0.00001
NM_018965.4(TREM2):c.482+2T>C rs386834144 0.00001
NC_000019.10:g.35905861_35911126del
NC_000019.10:g.35905884_35911125del
NM_003332.4(TYROBP):c.116G>A (p.Ser39Asn) rs386833839
NM_003332.4(TYROBP):c.123C>G (p.Gly41=) rs111477177
NM_003332.4(TYROBP):c.145G>C (p.Gly49Arg) rs386833841
NM_003332.4(TYROBP):c.262G>T (p.Glu88Ter) rs386833842
NM_003332.4(TYROBP):c.2T>C (p.Met1Thr) rs104894732
NM_018965.4(TREM2):c.113A>G (p.Tyr38Cys) rs797044603
NM_018965.4(TREM2):c.269del (p.Gly90fs) rs386834140
NM_018965.4(TREM2):c.287C>A (p.Thr96Lys) rs2234253
NM_018965.4(TREM2):c.40+4_40+6del rs386834142
NM_018965.4(TREM2):c.40G>T (p.Glu14Ter) rs386834143

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