ClinVar Miner

List of variants in gene TBX15 studied for congenital limb malformation

Included ClinVar conditions (336):
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Gene type:
ClinVar version:
Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_001330677.2(TBX15):c.694-49T>C rs4659129 0.65459
NM_001330677.2(TBX15):c.466C>A (p.His156Asn) rs10494217 0.13004
NM_001330677.2(TBX15):c.1710C>T (p.Ser570=) rs12569041 0.09675
NM_001330677.2(TBX15):c.1477C>G (p.Pro493Ala) rs17022678 0.02867
NM_001330677.2(TBX15):c.519C>T (p.Tyr173=) rs61730013 0.01515
NM_001330677.2(TBX15):c.837A>G (p.Thr279=) rs140670116 0.00196
NM_001330677.2(TBX15):c.861+14C>G rs192074581 0.00111
NM_001330677.2(TBX15):c.980G>A (p.Arg327His) rs141002143 0.00101
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.1348del (p.Ile450fs) rs2101422204
NM_001330677.2(TBX15):c.1350del (p.Pro451fs) rs2101422164
NM_001330677.2(TBX15):c.1609G>A (p.Ala537Thr)
NM_001330677.2(TBX15):c.1697T>G (p.Met566Arg) rs61730011
NM_001330677.2(TBX15):c.493A>G (p.Ile165Val)
NM_001330677.2(TBX15):c.943A>G (p.Ile315Val) rs867929526

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