List of variants in gene NOTCH3 reported as likely pathogenic by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 25

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HGVS	dbSNP	gnomAD frequency
NM_000435.3(NOTCH3):c.1630C>T (p.Arg544Cys)	rs201118034	0.00010
NM_000435.3(NOTCH3):c.1732C>T (p.Arg578Cys)	rs769773673	0.00004
NM_000435.3(NOTCH3):c.3062A>G (p.Tyr1021Cys)	rs1167405466	0.00001
NM_000435.3(NOTCH3):c.3356G>A (p.Cys1119Tyr)	rs1266914122	0.00001
NM_000435.3(NOTCH3):c.3403G>T (p.Gly1135Cys)	rs867379493	0.00001
NM_000435.3(NOTCH3):c.619C>T (p.Arg207Cys)	rs775267348	0.00001
NM_000435.3(NOTCH3):c.1013G>T (p.Cys338Phe)
NM_000435.3(NOTCH3):c.1279C>T (p.Arg427Cys)	rs1599391536
NM_000435.3(NOTCH3):c.1345C>T (p.Arg449Cys)	rs762734007
NM_000435.3(NOTCH3):c.1364G>A (p.Cys455Tyr)	rs886041513
NM_000435.3(NOTCH3):c.1531T>A (p.Cys511Ser)
NM_000435.3(NOTCH3):c.1565G>C (p.Cys522Ser)
NM_000435.3(NOTCH3):c.1816T>C (p.Cys606Arg)	rs1568359346
NM_000435.3(NOTCH3):c.194G>C (p.Cys65Ser)	rs1555730176
NM_000435.3(NOTCH3):c.239A>G (p.Asp80Gly)	rs1599395616
NM_000435.3(NOTCH3):c.245G>T (p.Cys82Phe)	rs1023306013
NM_000435.3(NOTCH3):c.2752G>T (p.Gly918Cys)
NM_000435.3(NOTCH3):c.2951T>G (p.Phe984Cys)	rs995523352
NM_000435.3(NOTCH3):c.3043T>C (p.Cys1015Arg)	rs1599382214
NM_000435.3(NOTCH3):c.3084G>C (p.Trp1028Cys)	rs2046832726
NM_000435.3(NOTCH3):c.316T>G (p.Cys106Gly)	rs1555729589
NM_000435.3(NOTCH3):c.436T>C (p.Cys146Arg)	rs1555729510
NM_000435.3(NOTCH3):c.601T>G (p.Cys201Gly)	rs1599394654
NM_000435.3(NOTCH3):c.719G>A (p.Cys240Tyr)	rs1599394351
NM_000435.3(NOTCH3):c.895A>T (p.Ser299Cys)	rs2046926886

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