ClinVar Miner

List of variants in gene TBX15 reported as uncertain significance for congenital limb malformation

Included ClinVar conditions (335):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_001330677.2(TBX15):c.1325G>A (p.Arg442Lys) rs144291418 0.00063
NM_001330677.2(TBX15):c.1721A>G (p.Asn574Ser) rs548905715 0.00014
NM_001330677.2(TBX15):c.1150G>A (p.Val384Met) rs368418125 0.00009
NM_001330677.2(TBX15):c.979C>T (p.Arg327Cys) rs762139183 0.00009
NM_001330677.2(TBX15):c.1208C>T (p.Ala403Val) rs755307688 0.00006
NM_001330677.2(TBX15):c.752T>C (p.Phe251Ser) rs199611902 0.00005
NM_001330677.2(TBX15):c.1404G>C (p.Gln468His) rs750877260 0.00001
NM_001330677.2(TBX15):c.1609G>A (p.Ala537Thr)
NM_001330677.2(TBX15):c.493A>G (p.Ile165Val)
NM_001330677.2(TBX15):c.943A>G (p.Ile315Val) rs867929526

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