List of variants in gene NOTCH1 reported as uncertain significance for connective tissue disorder

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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: 7

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HGVS	dbSNP	gnomAD frequency
NM_017617.5(NOTCH1):c.6205G>A (p.Ala2069Thr)	rs567909904	0.00005
NM_017617.5(NOTCH1):c.865+10C>T	rs760702631	0.00004
NM_017617.5(NOTCH1):c.2266G>A (p.Glu756Lys)	rs1271941628	0.00003
NM_017617.5(NOTCH1):c.3664G>A (p.Val1222Met)	rs112900950	0.00003
NM_017617.5(NOTCH1):c.6814C>T (p.Arg2272Cys)	rs752505638	0.00002
NM_017617.5(NOTCH1):c.5260G>A (p.Val1754Met)	rs1554727492
NM_017617.5(NOTCH1):c.7482G>A (p.Val2494=)	rs1268405497

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