ClinVar Miner

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

Included ClinVar conditions (1350):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_014694.4(ADAMTSL2):c.683-12T>G rs9802778 0.85656
NM_014694.4(ADAMTSL2):c.939+47T>C rs2073879 0.85292
NM_014694.4(ADAMTSL2):c.840A>T (p.Ala280=) rs2073875 0.85265
NM_014694.4(ADAMTSL2):c.774C>T (p.Asp258=) rs2073874 0.85257
NM_014694.4(ADAMTSL2):c.859A>C (p.Arg287=) rs2073876 0.85254
NM_014694.4(ADAMTSL2):c.939+11C>T rs2073878 0.85229
NM_014694.4(ADAMTSL2):c.2313A>G (p.Val771=) rs1064975 0.61566
NM_014694.4(ADAMTSL2):c.*158G>A rs1105952 0.60421
NM_014694.4(ADAMTSL2):c.-150-79A>C rs11507717 0.59705
NM_014694.4(ADAMTSL2):c.683-63C>T rs11522325 0.50762
NM_014694.4(ADAMTSL2):c.683-135A>G rs9802736 0.34898
NM_014694.4(ADAMTSL2):c.1090G>A (p.Val364Ile) rs35767802 0.24762
NM_014694.4(ADAMTSL2):c.900C>T (p.Ile300=) rs2073877 0.10895
NM_014694.4(ADAMTSL2):c.*376G>A rs113048552 0.07135
NM_014694.4(ADAMTSL2):c.*217G>T rs111717891 0.06104
NM_014694.4(ADAMTSL2):c.*252C>T rs112953345 0.01241
NM_014694.4(ADAMTSL2):c.1230C>T (p.Ala410=) rs369962641 0.01009
NM_014694.4(ADAMTSL2):c.*291del rs67336169
NM_014694.4(ADAMTSL2):c.*92G>A rs62574238
NM_014694.4(ADAMTSL2):c.310-9G>A rs147342065

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