ClinVar Miner

List of variants studied for syndrome caused by partial chromosomal deletion by Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen

Included ClinVar conditions (110):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_001002295.2(GATA3):c.821T>C (p.Leu274Pro)
NM_001145358.2(SIN3A):c.3473dup (p.Asn1158fs) rs2141368718
NM_001172509.2(SATB2):c.473+1G>A
NM_006940.6(SOX5):c.1672C>T (p.Arg558Cys) rs1591908680
NM_016628.5(WAC):c.1830_1833dup (p.Val612fs)
NM_016628.5(WAC):c.1864C>T (p.Arg622Ter)
NM_016628.5(WAC):c.284dup (p.Tyr95Ter)
NM_016628.5(WAC):c.497+2T>G
NM_022455.5(NSD1):c.4220_4221del (p.Lys1407fs) rs2149889364
NM_030665.4(RAI1):c.848_851del (p.Gln283fs)
NM_030665.4(RAI1):c.868C>T (p.Gln290Ter) rs771803841
Single allele

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