ClinVar Miner

List of variants studied for autosomal anomaly by Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center

Included ClinVar conditions (124):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_001172509.2(SATB2):c.1555G>A (p.Glu519Lys)
NM_001172509.2(SATB2):c.1564C>T (p.Arg522Cys) rs1223371144
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_022455.5(NSD1):c.2386_2389del (p.Glu796fs) rs587784086
NM_022455.5(NSD1):c.6566_6567dup (p.Met2190fs)

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