ClinVar Miner

List of variants studied for chromosomal disorder by Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center

Included ClinVar conditions (201):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 33
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HGVS dbSNP gnomAD frequency
NM_000057.4(BLM):c.3439A>T (p.Lys1147Ter) rs770311534 0.00002
NC_000022.11:g.43032129_50739836del
NC_000022.11:g.43802117_50806121del
NC_000022.11:g.44245760_50806121del
NC_000022.11:g.44702479_50806138del
NC_000022.11:g.45708330_50737364del
NC_000022.11:g.45819932_50737806del
NC_000022.11:g.46269281_50740560del
NC_000022.11:g.46467175_50759338del
NC_000022.11:g.46489644_50806138del
NC_000022.11:g.47447433_50806138del
NC_000022.11:g.47513236_50806138del
NC_000022.11:g.47705262_50739836del
NC_000022.11:g.47823120_50759410del
NC_000022.11:g.48500337_50739785del
NC_000022.11:g.48500344_50780581del
NC_000022.11:g.49181210_50759297del
NM_001172509.2(SATB2):c.1555G>A (p.Glu519Lys)
NM_001172509.2(SATB2):c.1564C>T (p.Arg522Cys) rs1223371144
NM_001372044.2(SHANK3):c.5074_5077dup (p.His1693fs)
NM_001378120.1(MBD5):c.1438C>T (p.Gln480Ter)
NM_002397.5(MEF2C):c.134T>C (p.Leu45Pro)
NM_002397.5(MEF2C):c.210delinsTAC (p.Glu71fs)
NM_002397.5(MEF2C):c.241A>G (p.Asn81Asp)
NM_006940.6(SOX5):c.1712G>A (p.Arg571Gln)
NM_016628.5(WAC):c.139C>T (p.Arg47Ter) rs368543869
NM_016628.5(WAC):c.67C>T (p.Gln23Ter) rs1836464000
NM_019066.5(MAGEL2):c.2319del (p.Ala772_Trp773insTer)
NM_022455.5(NSD1):c.2386_2389del (p.Glu796fs) rs587784086
NM_022455.5(NSD1):c.6566_6567dup (p.Met2190fs)
NM_030665.4(RAI1):c.219_226del (p.Ala74fs)
NM_033517.1(SHANK3):c.3679dup (p.Ala1227fs) rs762292772
NM_080647.1(TBX1):c.855G>C (p.Lys285Asn) rs2145836461

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