ClinVar Miner

List of variants in gene ADAMTSL2 reported as pathogenic for bone disorder

Included ClinVar conditions (1346):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_014694.4(ADAMTSL2):c.499G>A (p.Asp167Asn) rs761886575 0.00003
NM_014694.4(ADAMTSL2):c.340G>A (p.Glu114Lys) rs113994123 0.00002
NM_014694.4(ADAMTSL2):c.215G>A (p.Arg72Gln) rs387907064 0.00001
NM_014694.4(ADAMTSL2):c.234-2A>G rs775621284
NM_014694.4(ADAMTSL2):c.2431G>A (p.Gly811Arg) rs113994124
NM_014694.4(ADAMTSL2):c.2586G>A (p.Trp862Ter) rs113994125
NM_014694.4(ADAMTSL2):c.338G>A (p.Arg113His) rs113994122
NM_014694.4(ADAMTSL2):c.440C>T (p.Pro147Leu) rs113994121
NM_014694.4(ADAMTSL2):c.529C>T (p.Arg177Ter) rs953298656
NM_014694.4(ADAMTSL2):c.661C>T (p.Arg221Cys) rs387907065

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