ClinVar Miner

List of variants reported as pathogenic for chromosomal disorder by Génétique des Maladies du Développement, Hospices Civils de Lyon

Included ClinVar conditions (200):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_001110792.2(MECP2):c.1137_1237del (p.His379fs) rs1557135315
NM_001172509.2(SATB2):c.1165C>T (p.Arg389Cys)
NM_001372044.2(SHANK3):c.3777G>A (p.Glu1259=) rs763158627
NM_001378120.1(MBD5):c.3828dup (p.Asn1277fs) rs2105124073
NM_006940.6(SOX5):c.433dup (p.Thr145fs) rs2136046122
NM_016628.5(WAC):c.405G>A (p.Trp135Ter) rs1839996657
NM_022455.5(NSD1):c.1854del (p.Lys618_Val619insTer) rs1562206791
NM_033517.1(SHANK3):c.3637dup (p.His1213fs) rs1555910162

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