ClinVar Miner

List of variants in gene combination LOC126860794, NOTCH1 reported as likely benign for not specified

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Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_017617.5(NOTCH1):c.5988G>A (p.Thr1996=) rs186453356 0.00236
NM_017617.5(NOTCH1):c.6082+10C>T rs114120958 0.00019
NM_017617.5(NOTCH1):c.6180+9G>A rs200371378 0.00015
NM_017617.5(NOTCH1):c.6083-4G>A rs570242146 0.00008
NM_017617.5(NOTCH1):c.6082+18C>T rs200956958 0.00007
NM_017617.5(NOTCH1):c.6083-15G>C rs935662425 0.00004
NM_017617.5(NOTCH1):c.6180+8C>T rs769015966 0.00003
NM_017617.5(NOTCH1):c.6083-16T>G rs1050080917 0.00001
NM_017617.5(NOTCH1):c.6135T>C (p.Val2045=) rs920077656 0.00001
NM_017617.5(NOTCH1):c.6111C>G (p.Ala2037=) rs749488166
NM_017617.5(NOTCH1):c.6153G>A (p.Gly2051=) rs1554826678
NM_017617.5(NOTCH1):c.6180+9G>T rs200371378

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