List of variants in gene NOTCH1 reported as likely benign by Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+

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: 32

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HGVS	dbSNP	gnomAD frequency
NM_017617.5(NOTCH1):c.3836G>A (p.Arg1279His)	rs61751543	0.01655
NM_017617.5(NOTCH1):c.2691C>T (p.Ala897=)	rs11574895	0.01135
NM_017617.5(NOTCH1):c.3780G>C (p.Val1260=)	rs201354526	0.00754
NM_017617.5(NOTCH1):c.5124G>T (p.Ser1708=)	rs35980907	0.00561
NM_017617.5(NOTCH1):c.4536C>T (p.Ala1512=)	rs61751540	0.00358
NM_017617.5(NOTCH1):c.2207+10G>A	rs191892426	0.00338
NM_017617.5(NOTCH1):c.5226C>T (p.Ala1742=)	rs116316039	0.00311
NM_017617.5(NOTCH1):c.3294C>T (p.Ser1098=)	rs61751546	0.00283
NM_017617.5(NOTCH1):c.2734C>T (p.Arg912Trp)	rs201620358	0.00221
NM_017617.5(NOTCH1):c.4887C>T (p.His1629=)	rs61751539	0.00182
NM_017617.5(NOTCH1):c.3315G>T (p.Ala1105=)	rs3812602	0.00175
NM_017617.5(NOTCH1):c.4028C>T (p.Ala1343Val)	rs183156491	0.00171
NM_017617.5(NOTCH1):c.2970-20G>A	rs367927174	0.00116
NM_017617.5(NOTCH1):c.4930C>T (p.Leu1644=)	rs568700183	0.00046
NM_017617.5(NOTCH1):c.3644-4G>A	rs376161552	0.00040
NM_017617.5(NOTCH1):c.2325C>T (p.Tyr775=)	rs749686245	0.00038
NM_017617.5(NOTCH1):c.5638+19A>G	rs368675083	0.00026
NM_017617.5(NOTCH1):c.5189C>T (p.Pro1730Leu)	rs375897519	0.00024
NM_017617.5(NOTCH1):c.879C>T (p.Thr293=)	rs370170212	0.00024
NM_017617.5(NOTCH1):c.3288G>C (p.Val1096=)	rs374944458	0.00016
NM_017617.5(NOTCH1):c.165G>A (p.Pro55=)	rs373793124	0.00012
NM_017617.5(NOTCH1):c.2805C>T (p.Pro935=)	rs200332386	0.00012
NM_017617.5(NOTCH1):c.2207+15C>T	rs187086513	0.00010
NM_017617.5(NOTCH1):c.5718G>A (p.Ala1906=)	rs369730620	0.00006
NM_017617.5(NOTCH1):c.4635C>T (p.Cys1545=)	rs775752102	0.00005
NM_017617.5(NOTCH1):c.1869C>T (p.Asn623=)	rs376726823	0.00004
NM_017617.5(NOTCH1):c.6453C>T (p.Pro2151=)	rs377302245	0.00004
NM_017617.5(NOTCH1):c.6521A>G (p.Lys2174Arg)	rs761602495	0.00004
NM_017617.5(NOTCH1):c.1863C>T (p.Arg621=)	rs749374016	0.00003
NM_017617.5(NOTCH1):c.3510+3G>A	rs372739350	0.00003
NM_017617.5(NOTCH1):c.1407C>T (p.Asp469=)	rs1405995623	0.00001
NM_017617.5(NOTCH1):c.4443C>T (p.Leu1481=)	rs2133339138

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