ClinVar Miner

List of variants reported as likely benign for Ehlers-Danlos syndrome due to tenascin-X deficiency

Included ClinVar conditions (3):
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ClinVar version:
Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_001365276.2(TNXB):c.10607-19C>A rs773540524 0.01008
NM_001365276.2(TNXB):c.113G>A (p.Arg38Gln) rs149502087 0.00876
NM_001365276.2(TNXB):c.4484C>T (p.Thr1495Ile) rs6910390 0.00842
NM_001365276.2(TNXB):c.2385A>G (p.Thr795=) rs185461070 0.00300
NM_001365276.2(TNXB):c.12058+15G>A rs762839811 0.00275
NM_001365276.2(TNXB):c.12592G>A (p.Ala4198Thr) rs756508366 0.00233
NM_001365276.2(TNXB):c.2811C>A (p.Thr937=) rs140665128 0.00166
NM_001365276.2(TNXB):c.10713C>T (p.Ser3571=) rs758424441 0.00072
NM_001365276.2(TNXB):c.7802C>T (p.Pro2601Leu) rs575866552 0.00053
NM_001365276.2(TNXB):c.4209C>T (p.Thr1403=) rs148934769 0.00047
NM_001365276.2(TNXB):c.9762C>T (p.Pro3254=) rs190855421 0.00047
NM_001365276.2(TNXB):c.8468-1G>A rs200718357 0.00039
NM_001365276.2(TNXB):c.12058+6T>G rs761600175 0.00022
NM_001365276.2(TNXB):c.7413T>C (p.Pro2471=) rs375764263 0.00016
NM_001365276.2(TNXB):c.7417C>T (p.Arg2473Cys) rs373029180 0.00014
NM_001365276.2(TNXB):c.6303A>G (p.Leu2101=) rs761030884 0.00012
NM_001365276.2(TNXB):c.12210+5G>A rs4959085 0.00011
NM_001365276.2(TNXB):c.12156C>G (p.Arg4052=) rs6457479
NM_001365276.2(TNXB):c.12224G>A (p.Arg4075His) rs201510617
NM_001365276.2(TNXB):c.5442C>G (p.Asp1814Glu) rs181025235

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