List of variants in gene LTBP2 reported as likely benign for Weill-Marchesani syndrome

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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: 16

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HGVS	dbSNP	gnomAD frequency
NM_000428.3(LTBP2):c.*2684A>G	rs74384554	0.01012
NM_000428.3(LTBP2):c.378C>T (p.Pro126=)	rs140842900	0.00528
NM_000428.3(LTBP2):c.*119C>T	rs146119949	0.00526
NM_000428.3(LTBP2):c.3891G>A (p.Pro1297=)	rs61738013	0.00500
NM_000428.3(LTBP2):c.1399+10G>T	rs143528294	0.00488
NM_000428.3(LTBP2):c.3527-3C>A	rs138194436	0.00364
NM_000428.3(LTBP2):c.4203G>A (p.Thr1401=)	rs150977380	0.00305
NM_000428.3(LTBP2):c.450G>T (p.Arg150=)	rs111342797	0.00290
NM_000428.3(LTBP2):c.*2363A>G	rs190461277	0.00211
NM_000428.3(LTBP2):c.4467T>C (p.Cys1489=)	rs80088294	0.00165
NM_000428.3(LTBP2):c.4621G>A (p.Glu1541Lys)	rs143456909	0.00121
NM_000428.3(LTBP2):c.1686+3G>A	rs190814774	0.00049
NM_000428.3(LTBP2):c.*945T>C	rs374130664	0.00042
NM_000428.3(LTBP2):c.1295C>T (p.Pro432Leu)	rs137854861	0.00032
NM_000428.3(LTBP2):c.*1427A>G	rs187052141	0.00024
NM_000428.3(LTBP2):c.2160C>T (p.Phe720=)	rs74758312	0.00023

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