ClinVar Miner

List of variants in gene combination LOC106780803, TNXB reported as uncertain significance for Ehlers-Danlos syndrome

Included ClinVar conditions (70):
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Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_001365276.2(TNXB):c.12469+2T>C rs545719209 0.01022
NM_001365276.2(TNXB):c.11227G>A (p.Asp3743Asn) rs1254121532 0.00082
NM_001365276.2(TNXB):c.11581G>A (p.Ala3861Thr) rs201121030 0.00068
NM_001365276.2(TNXB):c.11387-10A>G rs549209308 0.00014
NM_001365276.2(TNXB):c.10812C>T (p.Gly3604=) rs769797413 0.00010
NM_001365276.2(TNXB):c.12180C>G (p.Cys4060Trp) rs56345590 0.00010
NM_001365276.2(TNXB):c.11421C>T (p.Ala3807=) rs761117807 0.00006
NM_001365276.2(TNXB):c.12168G>C (p.Leu4056=) rs767740137 0.00004
NM_001365276.2(TNXB):c.10803C>T (p.Leu3601=) rs759124319 0.00003
NM_001365276.2(TNXB):c.10633G>A (p.Glu3545Lys) rs1379154957 0.00001
NM_001365276.2(TNXB):c.10789C>T (p.Pro3597Ser) rs764559504 0.00001
NM_001365276.2(TNXB):c.10636_10647dup (p.Glu3549_Ala3550insLeuAlaProGlu) rs1776786308
NM_001365276.2(TNXB):c.11983A>G (p.Thr3995Ala)
NM_001365276.2(TNXB):c.12161G>C (p.Arg4054Pro)
NM_001365276.2(TNXB):c.12167T>C (p.Leu4056Pro) rs2151880909
NM_001365276.2(TNXB):c.12224G>A (p.Arg4075His) rs201510617
NM_001365276.2(TNXB):c.12376G>A (p.Asp4126Asn)
NM_001365276.2(TNXB):c.12520G>A (p.Asp4174Asn) rs200523717
NM_001365276.2(TNXB):c.12525dup (p.Asn4176fs) rs2151879527
NM_001365276.2(TNXB):c.12530G>A (p.Ser4177Asn) rs199953230

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