ClinVar Miner

List of variants studied for multiple congenital anomalies/dysmorphic syndrome-intellectual disability by Department of Medical Genetics, Oslo University Hospital

Included ClinVar conditions (406):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_003482.4(KMT2D):c.11599C>A (p.Gln3867Lys) rs1200655258 0.00001
NM_003482.4(KMT2D):c.7182C>A (p.Ser2394Arg) rs2120531136
NM_006662.3(SRCAP):c.7303C>T (p.Arg2435Ter) rs199469465
NM_012330.4(KAT6B):c.3769_3772del (p.Lys1258fs) rs199470470
NM_024757.5(EHMT1):c.2018+1G>C rs1950997931
NM_030632.3(ASXL3):c.3033dup (p.Leu1012fs) rs2067643753
NM_130466.3(UBE3B):c.[1773delC];[1A>G]

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