ClinVar Miner

List of variants in gene combination LOC126860794, NOTCH1 reported as likely benign by GeneDx

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Gene type:
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Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_017617.5(NOTCH1):c.6180+126G>A rs79872302 0.00985
NM_017617.5(NOTCH1):c.6180+151C>T rs75949473 0.00586
NM_017617.5(NOTCH1):c.6105C>T (p.Ala2035=) rs188357478 0.00108
NM_017617.5(NOTCH1):c.5967T>C (p.Asp1989=) rs73668311 0.00061
NM_017617.5(NOTCH1):c.6108C>T (p.Ala2036=) rs369167693 0.00046
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.6057C>T (p.Ala2019=) rs758702512 0.00010
NM_017617.5(NOTCH1):c.6083-5C>T rs199786076 0.00009
NM_017617.5(NOTCH1):c.6120T>C (p.Asn2040=) rs201625763 0.00009
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.6150C>T (p.Asn2050=) rs757372588 0.00004
NM_017617.5(NOTCH1):c.6180+8C>T rs769015966 0.00003
NM_017617.5(NOTCH1):c.6069C>T (p.Ala2023=) rs375920679 0.00002
NM_017617.5(NOTCH1):c.6083-10T>G rs1380449680 0.00002
NM_017617.5(NOTCH1):c.6111C>G (p.Ala2037=) rs749488166
NM_017617.5(NOTCH1):c.6180+9G>T rs200371378

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