List of variants in gene NOTCH1 reported as likely pathogenic for not provided

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_017617.5(NOTCH1):c.1162G>A (p.Asp388Asn)	rs1290954710	0.00001
NM_017617.5(NOTCH1):c.1093C>T (p.Arg365Cys)	rs1064795070
NM_017617.5(NOTCH1):c.1108T>C (p.Cys370Arg)
NM_017617.5(NOTCH1):c.1393G>A (p.Ala465Thr)	rs1057523819
NM_017617.5(NOTCH1):c.140+2T>A
NM_017617.5(NOTCH1):c.141-2A>T	rs1554730758
NM_017617.5(NOTCH1):c.2588-2A>C	rs1057521857
NM_017617.5(NOTCH1):c.3511-1G>A	rs2133345379
NM_017617.5(NOTCH1):c.4121G>T (p.Cys1374Phe)	rs1064796867
NM_017617.5(NOTCH1):c.4549G>A (p.Asp1517Asn)	rs1554727954
NM_017617.5(NOTCH1):c.4552_4560del (p.Gly1518_Asp1520del)	rs2133338569
NM_017617.5(NOTCH1):c.4923dup (p.Asp1642Ter)
NM_017617.5(NOTCH1):c.5624A>G (p.Asn1875Ser)
NM_017617.5(NOTCH1):c.6200T>C (p.Leu2067Pro)	rs786205600
NM_017617.5(NOTCH1):c.6253G>C (p.Ala2085Pro)	rs786205599
NM_017617.5(NOTCH1):c.977dup (p.Trp327fs)

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