ClinVar Miner

List of variants in gene combination LOC106780803, TNXB reported as uncertain significance by Genome Diagnostics Laboratory, The Hospital for Sick Children

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Total variants: 9
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HGVS dbSNP gnomAD frequency
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.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.10636_10647dup (p.Glu3549_Ala3550insLeuAlaProGlu) rs1776786308
NM_001365276.2(TNXB):c.12167T>C (p.Leu4056Pro) rs2151880909

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