ClinVar Miner

List of variants in gene NOTCH1 reported by Department of Pathology and Laboratory Medicine, Sinai Health System

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Gene type:
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Total variants: 16
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HGVS dbSNP gnomAD frequency
NM_017617.5(NOTCH1):c.2263_2265del (p.Asn755del) rs587778559 0.00021
NM_017617.5(NOTCH1):c.3853G>A (p.Val1285Met) rs756972680 0.00007
NM_017617.5(NOTCH1):c.7397C>T (p.Thr2466Met) rs369167555 0.00007
NM_017617.5(NOTCH1):c.2108G>A (p.Arg703His) rs561126575 0.00006
NM_017617.5(NOTCH1):c.3245G>A (p.Arg1082His) rs758471372 0.00003
NM_017617.5(NOTCH1):c.3341G>A (p.Arg1114His) rs777684045 0.00003
NM_017617.5(NOTCH1):c.3664G>A (p.Val1222Met) rs112900950 0.00003
NM_017617.5(NOTCH1):c.5407G>A (p.Gly1803Ser) rs369526652 0.00003
NM_017617.5(NOTCH1):c.5422G>A (p.Asp1808Asn) rs571739078 0.00002
NM_017617.5(NOTCH1):c.1077C>T (p.Cys359=) rs202235419 0.00001
NM_017617.5(NOTCH1):c.2983G>A (p.Gly995Ser) rs868369610 0.00001
NM_017617.5(NOTCH1):c.3098G>A (p.Gly1033Asp) rs928471137 0.00001
NM_017617.5(NOTCH1):c.5333C>T (p.Ala1778Val) rs1422917398 0.00001
NM_017617.5(NOTCH1):c.1897A>T (p.Thr633Ser)
NM_017617.5(NOTCH1):c.3332A>G (p.Asp1111Gly) rs2133346648
NM_017617.5(NOTCH1):c.4106G>A (p.Ser1369Asn)

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