ClinVar Miner

List of variants reported as benign for Ehlers-Danlos syndrome by Genome Diagnostics Laboratory,VU University Medical Center Amsterdam

Included ClinVar conditions (36):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 30
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HGVS dbSNP
NM_001367624.1(ZNF469):c.1069T>C (p.Ser357Pro) rs11648572
NM_001367624.1(ZNF469):c.10972G>C (p.Glu3658Gln) rs1105066
NM_001367624.1(ZNF469):c.1098A>C (p.Arg366Ser) rs11640794
NM_001367624.1(ZNF469):c.11757A>G (p.Pro3919=) rs4782301
NM_001367624.1(ZNF469):c.11856C>T (p.Ser3952=) rs4782362
NM_001367624.1(ZNF469):c.1529G>C (p.Gly510Ala) rs7199961
NM_001367624.1(ZNF469):c.1776A>G (p.Pro592=) rs12927001
NM_001367624.1(ZNF469):c.2130T>C (p.Pro710=) rs12918876
NM_001367624.1(ZNF469):c.3153T>C (p.Ile1051=) rs9924504
NM_001367624.1(ZNF469):c.3522G>A (p.Pro1174=) rs9938800
NM_001367624.1(ZNF469):c.3568A>G (p.Lys1190Glu) rs7197071
NM_001367624.1(ZNF469):c.4343C>T (p.Pro1448Leu) rs4782300
NM_001367624.1(ZNF469):c.4419T>G (p.Ser1473=) rs12445417
NM_001367624.1(ZNF469):c.5661C>G (p.Thr1887=) rs9931465
NM_001367624.1(ZNF469):c.7156G>C (p.Gly2386Arg) rs12598474
NM_001367624.1(ZNF469):c.8093T>A (p.Leu2698Gln) rs3812956
NM_001367624.1(ZNF469):c.8604C>T (p.Arg2868=) rs3812953
NM_001367624.1(ZNF469):c.8627A>G (p.His2876Arg) rs1983014
NM_007255.3(B4GALT7):c.219T>C (p.Arg73=) rs11537644
NM_007255.3(B4GALT7):c.777T>C (p.His259=) rs729459
NM_014244.5(ADAMTS2):c.1194C>T (p.Asp398=) rs2278221
NM_014244.5(ADAMTS2):c.1238+18G>A rs2278222
NM_014244.5(ADAMTS2):c.1630-18T>C rs2303638
NM_014244.5(ADAMTS2):c.2959-17C>T rs2303641
NM_014244.5(ADAMTS2):c.321T>C (p.Ser107=) rs2271212
NM_014244.5(ADAMTS2):c.3529C>T (p.Pro1177Ser) rs1054480
NM_014244.5(ADAMTS2):c.534+9G>C rs2271213
NM_014244.5(ADAMTS2):c.722G>A (p.Arg241His) rs11750821
NM_014244.5(ADAMTS2):c.733G>A (p.Val245Ile) rs398829
NM_014244.5(ADAMTS2):c.786G>A (p.Ala262=) rs423552

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