ClinVar Miner

List of variants in gene B9D2 reported as likely benign for bone disorder

Included ClinVar conditions (1346):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_030578.4(B9D2):c.336G>A (p.Thr112=) rs139072904 0.00027
NM_030578.4(B9D2):c.151A>C (p.Ile51Leu) rs368393895 0.00024
NM_030578.4(B9D2):c.224G>A (p.Arg75Gln) rs148087680 0.00016
NM_030578.4(B9D2):c.309G>A (p.Pro103=) rs201735642 0.00004
NM_030578.4(B9D2):c.495C>T (p.Leu165=) rs542445852 0.00004
NM_030578.4(B9D2):c.89-15C>T rs371483684 0.00004
NM_030578.4(B9D2):c.132G>A (p.Thr44=)
NM_030578.4(B9D2):c.186C>T (p.Asp62=)
NM_030578.4(B9D2):c.346C>T (p.Leu116=) rs1555755825
NM_030578.4(B9D2):c.432C>T (p.Ala144=)
NM_030578.4(B9D2):c.516C>T (p.Gly172=)
NM_030578.4(B9D2):c.88+17G>C

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