ClinVar Miner

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

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 3
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HGVS dbSNP gnomAD frequency
NM_003332.4(TYROBP):c.141del (p.Met48fs) rs386833840 0.00001
NC_000019.10:g.35905861_35911126del
NM_003332.4(TYROBP):c.2T>C (p.Met1Thr) rs104894732

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