ClinVar Miner

List of variants in gene TBCD reported as uncertain significance for Inborn genetic diseases

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Total variants: 49
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HGVS dbSNP gnomAD frequency
NM_005993.5(TBCD):c.2582C>T (p.Thr861Met) rs370658754 0.00021
NM_005993.5(TBCD):c.541G>C (p.Ala181Pro) rs201980005 0.00020
NM_005993.5(TBCD):c.2368C>T (p.Arg790Trp) rs200557085 0.00014
NM_005993.5(TBCD):c.1826T>G (p.Met609Arg) rs372610438 0.00009
NM_005993.5(TBCD):c.1913A>G (p.Gln638Arg) rs539457901 0.00009
NM_005993.5(TBCD):c.2273C>T (p.Thr758Met) rs374216515 0.00008
NM_005993.5(TBCD):c.2723A>G (p.Gln908Arg) rs770264615 0.00004
NM_005993.5(TBCD):c.3476C>T (p.Ala1159Val) rs375065191 0.00004
NM_005993.5(TBCD):c.1615G>A (p.Val539Ile) rs550172307 0.00003
NM_005993.5(TBCD):c.2867C>T (p.Ser956Phe) rs567316358 0.00002
NM_005993.5(TBCD):c.625G>A (p.Val209Ile) rs560749650 0.00002
NM_005993.5(TBCD):c.1244C>T (p.Ala415Val) rs763143236 0.00001
NM_005993.5(TBCD):c.1720C>T (p.His574Tyr) rs771477529 0.00001
NM_005993.5(TBCD):c.2690A>G (p.His897Arg) rs745875454 0.00001
NM_005993.5(TBCD):c.3538G>A (p.Val1180Ile) rs767635450 0.00001
NM_005993.5(TBCD):c.110G>A (p.Arg37Gln)
NM_005993.5(TBCD):c.1265C>T (p.Ala422Val)
NM_005993.5(TBCD):c.1483G>A (p.Val495Met)
NM_005993.5(TBCD):c.1695C>A (p.Asp565Glu)
NM_005993.5(TBCD):c.1699C>G (p.Leu567Val)
NM_005993.5(TBCD):c.1784C>A (p.Pro595His)
NM_005993.5(TBCD):c.1837C>T (p.Pro613Ser)
NM_005993.5(TBCD):c.1851G>A (p.Met617Ile)
NM_005993.5(TBCD):c.1931C>T (p.Thr644Met)
NM_005993.5(TBCD):c.2137C>T (p.His713Tyr)
NM_005993.5(TBCD):c.2164C>A (p.Arg722Ser)
NM_005993.5(TBCD):c.2225T>C (p.Met742Thr)
NM_005993.5(TBCD):c.2351G>A (p.Gly784Asp)
NM_005993.5(TBCD):c.2366G>C (p.Gly789Ala)
NM_005993.5(TBCD):c.2369G>A (p.Arg790Gln)
NM_005993.5(TBCD):c.2468C>A (p.Ala823Glu) rs749860401
NM_005993.5(TBCD):c.2720C>T (p.Ala907Val)
NM_005993.5(TBCD):c.2780C>T (p.Thr927Met)
NM_005993.5(TBCD):c.2869G>A (p.Val957Met)
NM_005993.5(TBCD):c.2944G>A (p.Val982Ile)
NM_005993.5(TBCD):c.2993T>G (p.Ile998Ser)
NM_005993.5(TBCD):c.3160G>A (p.Gly1054Ser)
NM_005993.5(TBCD):c.3277G>A (p.Ala1093Thr)
NM_005993.5(TBCD):c.3424G>A (p.Val1142Ile)
NM_005993.5(TBCD):c.3433G>A (p.Ala1145Thr)
NM_005993.5(TBCD):c.3451G>T (p.Val1151Leu)
NM_005993.5(TBCD):c.379G>A (p.Ala127Thr)
NM_005993.5(TBCD):c.535G>C (p.Gly179Arg)
NM_005993.5(TBCD):c.54C>G (p.Asp18Glu)
NM_005993.5(TBCD):c.553A>G (p.Ile185Val)
NM_005993.5(TBCD):c.704A>G (p.Asn235Ser)
NM_005993.5(TBCD):c.704A>T (p.Asn235Ile)
NM_005993.5(TBCD):c.749T>C (p.Met250Thr)
NM_005993.5(TBCD):c.82G>A (p.Glu28Lys)

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