ClinVar Miner

List of variants in gene LTBP2 reported as likely benign by CeGaT Center for Human Genetics Tuebingen

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Gene type:
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Total variants: 21
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HGVS dbSNP gnomAD frequency
NM_000428.3(LTBP2):c.4769T>C (p.Val1590Ala) rs139932140 0.00769
NM_000428.3(LTBP2):c.378C>T (p.Pro126=) rs140842900 0.00528
NM_000428.3(LTBP2):c.4203G>A (p.Thr1401=) rs150977380 0.00305
NM_000428.3(LTBP2):c.2668G>A (p.Glu890Lys) rs141783623 0.00235
NM_000428.3(LTBP2):c.807C>T (p.Pro269=) rs61738024 0.00219
NM_000428.3(LTBP2):c.3807G>A (p.Pro1269=) rs149953380 0.00193
NM_000428.3(LTBP2):c.4467T>C (p.Cys1489=) rs80088294 0.00165
NM_000428.3(LTBP2):c.2880C>T (p.Tyr960=) rs145851939 0.00139
NM_000428.3(LTBP2):c.2853G>A (p.Ser951=) rs151176143 0.00128
NM_000428.3(LTBP2):c.1797G>A (p.Pro599=) rs144293300 0.00073
NM_000428.3(LTBP2):c.2541A>G (p.Arg847=) rs140719298 0.00053
NM_000428.3(LTBP2):c.1295C>T (p.Pro432Leu) rs137854861 0.00032
NM_000428.3(LTBP2):c.818C>T (p.Ser273Leu) rs143282840 0.00032
NM_000428.3(LTBP2):c.1218C>T (p.Asn406=) rs139187713 0.00021
NM_000428.3(LTBP2):c.654C>T (p.Cys218=) rs375324850 0.00007
NM_000428.3(LTBP2):c.3927C>T (p.Asn1309=) rs143705153 0.00005
NM_000428.3(LTBP2):c.4941C>T (p.Ala1647=) rs199805158 0.00003
NM_000428.3(LTBP2):c.5055C>T (p.Thr1685=) rs764652187 0.00003
NM_000428.3(LTBP2):c.3468C>T (p.Gly1156=) rs370447827 0.00002
NM_000428.3(LTBP2):c.1296G>A (p.Pro432=) rs143214774
NM_000428.3(LTBP2):c.3278-23G>A

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