ClinVar Miner

List of variants reported as likely benign for bone remodeling disease by Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center

Included ClinVar conditions (104):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_003900.5(SQSTM1):c.996A>G (p.Ser332=) rs141436407 0.00230
NM_006019.4(TCIRG1):c.1800C>T (p.Ala600=) rs145144233 0.00182
NM_031471.6(FERMT3):c.1317G>A (p.Gln439=) rs72920390 0.00178
NM_031471.6(FERMT3):c.1893C>T (p.Ile631=) rs142025489 0.00106
NM_003900.5(SQSTM1):c.924G>A (p.Ala308=) rs139482113 0.00063

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