List of variants in gene NOTCH2 reported as uncertain significance by Revvity Omics, Revvity

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: 23

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HGVS	dbSNP	gnomAD frequency
NM_024408.4(NOTCH2):c.3014G>A (p.Gly1005Glu)	rs782036233	0.00012
NM_024408.4(NOTCH2):c.4114C>T (p.Arg1372Trp)	rs587778575	0.00012
NM_024408.4(NOTCH2):c.4699C>T (p.Arg1567Trp)	rs552225415	0.00007
NM_024408.4(NOTCH2):c.4169A>G (p.His1390Arg)	rs373035180	0.00006
NM_024408.4(NOTCH2):c.2816C>T (p.Pro939Leu)	rs201100122	0.00005
NM_024408.4(NOTCH2):c.2606G>A (p.Arg869Gln)	rs782269360	0.00002
NM_024408.4(NOTCH2):c.4094G>A (p.Arg1365His)	rs951352077	0.00002
NM_024408.4(NOTCH2):c.686C>A (p.Pro229His)	rs781850215	0.00002
NM_024408.4(NOTCH2):c.2238T>G (p.Asp746Glu)	rs1650573582	0.00001
NM_024408.4(NOTCH2):c.2345C>T (p.Thr782Ile)	rs781814481	0.00001
NM_024408.4(NOTCH2):c.3388G>A (p.Gly1130Ser)	rs782078365	0.00001
NM_024408.4(NOTCH2):c.4675C>G (p.Leu1559Val)	rs764641032	0.00001
NM_024408.4(NOTCH2):c.6314G>A (p.Arg2105Gln)	rs587650529	0.00001
NM_024408.4(NOTCH2):c.6562G>A (p.Ala2188Thr)	rs139052054	0.00001
NM_024408.4(NOTCH2):c.3319A>G (p.Ile1107Val)	rs781824405
NM_024408.4(NOTCH2):c.3523-5G>A	rs2526182528
NM_024408.4(NOTCH2):c.3692G>C (p.Arg1231Pro)	rs1366907623
NM_024408.4(NOTCH2):c.3978T>G (p.Pro1326=)	rs1004190689
NM_024408.4(NOTCH2):c.4462G>A (p.Glu1488Lys)	rs1131691315
NM_024408.4(NOTCH2):c.4732C>T (p.Arg1578Cys)	rs775412281
NM_024408.4(NOTCH2):c.5324C>T (p.Ala1775Val)	rs2526123900
NM_024408.4(NOTCH2):c.6208A>C (p.Ser2070Arg)	rs2526108212
NM_024408.4(NOTCH2):c.7391ACA[2] (p.Asn2466del)	rs1288820640

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