ClinVar Miner

List of variants studied for multiple congenital anomalies/dysmorphic syndrome-variable intellectual disability syndrome by Eurofins-Biomnis

Included ClinVar conditions (181):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_001085049.3(MRAS):c.68G>T (p.Gly23Val) rs1576359216
NM_002834.5(PTPN11):c.1507G>A (p.Gly503Arg) rs397507545
NM_017780.4(CHD7):c.5782C>T (p.Gln1928Ter)
NM_022455.5(NSD1):c.1810C>T (p.Arg604Ter) rs587784076

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