ClinVar Miner

List of variants reported as pathogenic for X-linked osteoporosis with fractures

Included ClinVar conditions (1):
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Total variants: 4
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HGVS dbSNP gnomAD frequency
GRCh37/hg19 Xq23(chrX:113097589-114931342)
NC_000023.10:g.(113050826_113097589)_(114931342_114941807)del
NM_005032.7(PLS3):c.216_219del (p.Ser73fs) rs2074664927
NM_005032.7(PLS3):c.256del (p.Ser86fs) rs1135402748

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