ClinVar Miner

List of variants reported for Moyamoya angiopathy with developmental delay by University of Washington Center for Mendelian Genomics, University of Washington

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Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_014516.4(CNOT3):c.910G>A (p.Gly304Ser) rs149108037 0.00051
NM_001080517.3(SETD5):c.2299C>T (p.Arg767Cys) rs183911558 0.00009
NM_001273.5(CHD4):c.5273A>G (p.Tyr1758Cys) rs777021265 0.00004
NM_001273.5(CHD4):c.1481C>T (p.Thr494Met) rs375234607 0.00002
NM_001273.5(CHD4):c.5221A>G (p.Ile1741Val) rs1229933151 0.00002
NM_001273.5(CHD4):c.5638C>T (p.Pro1880Ser) rs1947956104 0.00001
NM_001080517.3(SETD5):c.1015G>T (p.Asp339Tyr) rs1553621754
NM_001080517.3(SETD5):c.1981del (p.Glu661fs) rs2042197714
NM_001273.5(CHD4):c.1686+1G>T rs1948532502
NM_001273.5(CHD4):c.22C>T (p.Pro8Ser) rs1948698590
NM_001273.5(CHD4):c.3533C>T (p.Ala1178Val) rs1435884753
NM_014516.4(CNOT3):c.1564C>A (p.Leu522Ile) rs2074949880
NM_014516.4(CNOT3):c.643C>T (p.Gln215Ter) rs2074638284

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