ClinVar Miner

List of variants in gene combination LMBR1, ZRS reported as pathogenic for congenital limb malformation

Included ClinVar conditions (336):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_022458.4(LMBR1):c.423+4915C>T rs587779752 0.00001
NM_022458.3(LMBR1):c.320-5565_423+10975dup
NM_022458.4(LMBR1):c.423+4618C>G rs606231146
NM_022458.4(LMBR1):c.423+4808T>C rs606231152
NM_022458.4(LMBR1):c.423+4810G>A rs606231230
NM_022458.4(LMBR1):c.423+4818A>T rs606231148
NM_022458.4(LMBR1):c.423+4842T>C rs606231149
NM_022458.4(LMBR1):c.423+4847T>G rs606231231
NM_022458.4(LMBR1):c.423+4909C>T rs606231153
NM_022458.4(LMBR1):c.423+4917G>A rs606231147
NM_022458.4(LMBR1):c.423+4917G>C rs606231147
NM_022458.4(LMBR1):c.423+4919A>G rs2133321113
NM_022458.4(LMBR1):c.423+5134C>G rs606231151
NM_022458.4(LMBR1):c.423+5252A>G rs606231150

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