List of variants in gene NOD2 reported as pathogenic 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: 15

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HGVS	dbSNP	gnomAD frequency
NM_001370466.1(NOD2):c.2717+158C>T	rs5743289	0.10180
NM_001370466.1(NOD2):c.1678C>T (p.Arg560Cys)	rs104895479	0.00003
NM_001370466.1(NOD2):c.2046G>A (p.Trp682Ter)	rs776701942	0.00001
NM_001370466.1(NOD2):c.1065C>G (p.Asp355Glu)	rs104895476
NM_001370466.1(NOD2):c.1066G>A (p.Glu356Lys)	rs104895477
NM_001370466.1(NOD2):c.1068G>C (p.Glu356Asp)
NM_001370466.1(NOD2):c.1324C>T (p.Leu442Phe)	rs104895460
NM_001370466.1(NOD2):c.1403G>A (p.Cys468Tyr)	rs104895478
NM_001370466.1(NOD2):c.1406A>T (p.His469Leu)	rs104895472
NM_001370466.1(NOD2):c.1457T>C (p.Met486Thr)	rs104895473
NM_001370466.1(NOD2):c.1717G>A (p.Glu573Lys)	rs1964520477
NM_001370466.1(NOD2):c.1929C>A (p.Asn643Lys)	rs104895475
NM_001370466.1(NOD2):c.1951del (p.Leu651fs)	rs1201050964
NM_001370466.1(NOD2):c.919C>T (p.Arg307Trp)	rs104895462
NM_001370466.1(NOD2):c.920G>A (p.Arg307Gln)	rs104895461

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