ClinVar Miner

List of variants studied for multiple congenital anomalies/dysmorphic syndrome-intellectual disability by Clinical Genetics and Genomics, Karolinska University Hospital

Included ClinVar conditions (406):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001163435.3(TBCK):c.382-2A>G rs903296221 0.00004
NM_001163435.3(TBCK):c.2060-6793_2235+427del
NM_005343.4(HRAS):c.35G>C (p.Gly12Ala) rs104894230
NM_013275.6(ANKRD11):c.160C>T (p.Arg54Ter) rs749607205
NM_014225.6(PPP2R1A):c.400C>T (p.Arg134Trp)
NM_022552.5(DNMT3A):c.2105A>G (p.Asp702Gly)

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