List of variants in gene NOTCH2 reported as uncertain significance by CeGaT Center for Human Genetics Tuebingen

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: 18

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HGVS	dbSNP	gnomAD frequency
NM_024408.4(NOTCH2):c.5276T>C (p.Val1759Ala)	rs373166152	0.00011
NM_024408.4(NOTCH2):c.6767G>A (p.Arg2256His)	rs148759277	0.00004
NM_024408.4(NOTCH2):c.390G>A (p.Glu130=)	rs782723019	0.00002
NM_024408.4(NOTCH2):c.5731C>T (p.Arg1911Cys)	rs748716440	0.00002
NM_024408.4(NOTCH2):c.85C>T (p.Arg29Ter)	rs1174406807	0.00002
GRCh37/hg19 1p12-11.2(chr1:120546301-120608823)x1
NM_024408.4(NOTCH2):c.1079_1081del (p.Phe360del)	rs1570701950
NM_024408.4(NOTCH2):c.1663G>A (p.Glu555Lys)	rs1475043862
NM_024408.4(NOTCH2):c.203G>A (p.Cys68Tyr)
NM_024408.4(NOTCH2):c.4692C>G (p.Ser1564Arg)	rs774541297
NM_024408.4(NOTCH2):c.5795A>G (p.Asn1932Ser)
NM_024408.4(NOTCH2):c.6106C>T (p.Arg2036Ter)
NM_024408.4(NOTCH2):c.6837T>C (p.His2279=)	rs886044699
NM_024408.4(NOTCH2):c.6881T>C (p.Ile2294Thr)
NM_024408.4(NOTCH2):c.7120C>G (p.His2374Asp)
NM_024408.4(NOTCH2):c.719G>C (p.Gly240Ala)	rs1464974590
NM_024408.4(NOTCH2):c.728C>G (p.Thr243Ser)
NM_024408.4(NOTCH2):c.751+6G>C

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