ClinVar Miner

List of variants studied for bone development disease by Centre for Human Genetics

Included ClinVar conditions (588):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_001353214.3(DYM):c.1049T>G (p.Leu350Arg) rs1260746745
NM_001353214.3(DYM):c.1650dup (p.His551fs) rs2087498329
NM_001353214.3(DYM):c.1653_1654del (p.His551fs) rs2087496511
NM_001353214.3(DYM):c.1728+2T>C rs2087482291
NM_001353214.3(DYM):c.550T>C (p.Ser184Pro) rs2063482690
NM_001353214.3(DYM):c.705_708dup (p.Pro237fs) rs2063332964
NM_001353214.3(DYM):c.963del (p.Ser322fs) rs2095000244
NM_031296.3(RAB33B):c.400C>T (p.Gln134Ter) rs1750416123

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