ClinVar Miner

List of variants studied for multiple congenital anomalies/dysmorphic syndrome by Department of Paediatrics and Adolescent Medicine, The University of Hong Kong

Included ClinVar conditions (856):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 5
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HGVS dbSNP gnomAD frequency
NM_001854.4(COL11A1):c.3115G>A (p.Gly1039Ser) rs764282256
NM_002834.5(PTPN11):c.5C>T (p.Thr2Ile) rs267606990
NM_017799.4(TMEM260):c.1744G>C (p.Glu582Gln) rs761443112
NM_017799.4(TMEM260):c.193-2A>G rs1885455089
NM_018026.4(PACS1):c.607C>T (p.Arg203Trp) rs398123009

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