ClinVar Miner

List of variants in gene DYM reported as likely pathogenic for bone development disease

Included ClinVar conditions (618):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_001353214.3(DYM):c.208C>T (p.Arg70Ter) rs768509996 0.00003
NM_001353214.3(DYM):c.1762C>T (p.Arg588Ter) rs780873164 0.00001
NM_001353214.3(DYM):c.1125+1G>A
NM_001353214.3(DYM):c.1728+2T>C rs2087482291
NM_001353214.3(DYM):c.396T>A (p.Tyr132Ter) rs120074162
NM_001353214.3(DYM):c.54_55insC (p.Lys19fs) rs2148459355
NM_001353214.3(DYM):c.916C>T (p.Gln306Ter)
NM_001353214.3(DYM):c.99G>A (p.Trp33Ter)

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