ClinVar Miner

List of variants reported as benign for polycystic lipomembranous osteodysplasia with sclerosing leukoencephaly by Illumina Laboratory Services, Illumina

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_003332.4(TYROBP):c.*25A>C rs1802029 0.07474
NM_003332.4(TYROBP):c.*83C>T rs14715 0.01070
NM_003332.4(TYROBP):c.163G>T (p.Val55Leu) rs77782321 0.00810
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.68G>A (p.Arg23His) rs79272253 0.00061
NM_018965.4(TREM2):c.668C>T (p.Thr223Ile) rs138355759 0.00026
NM_018965.4(TREM2):c.*30G>A rs75272959 0.00009
NM_003332.4(TYROBP):c.123C>G (p.Gly41=) rs111477177

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