ClinVar Miner

List of variants in gene LTBP2 reported as pathogenic for not provided

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Total variants: 29
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HGVS dbSNP gnomAD frequency
NC_000014.8:g.(?_75078134)_(75078647_?)del
NM_000428.3(LTBP2):c.1107_1108del (p.Ala370fs) rs760404952
NM_000428.3(LTBP2):c.112del (p.Asp38fs)
NM_000428.3(LTBP2):c.129C>G (p.Tyr43Ter)
NM_000428.3(LTBP2):c.1756dup (p.Val586fs)
NM_000428.3(LTBP2):c.2015del (p.Gly672fs)
NM_000428.3(LTBP2):c.2327del (p.Val776fs) rs2139718507
NM_000428.3(LTBP2):c.244_263del (p.Leu82fs)
NM_000428.3(LTBP2):c.2612dup (p.Cys872fs)
NM_000428.3(LTBP2):c.2628C>G (p.Tyr876Ter) rs1566622093
NM_000428.3(LTBP2):c.2931del (p.Gly978fs) rs1467675240
NM_000428.3(LTBP2):c.304G>T (p.Glu102Ter) rs2139815717
NM_000428.3(LTBP2):c.3509del (p.Asn1170fs)
NM_000428.3(LTBP2):c.3611_3612insT (p.Pro1205fs)
NM_000428.3(LTBP2):c.3638del (p.Gly1213fs)
NM_000428.3(LTBP2):c.3638dup (p.Thr1214fs)
NM_000428.3(LTBP2):c.3776-1G>C
NM_000428.3(LTBP2):c.3833_3840dup (p.Gly1281fs)
NM_000428.3(LTBP2):c.3856_3857del (p.Val1286fs) rs2139693289
NM_000428.3(LTBP2):c.442_443del (p.Pro148fs)
NM_000428.3(LTBP2):c.4597C>T (p.Gln1533Ter) rs1446110883
NM_000428.3(LTBP2):c.4667dup (p.Leu1557fs)
NM_000428.3(LTBP2):c.4869del (p.Cys1624fs)
NM_000428.3(LTBP2):c.5046dup (p.Glu1683fs)
NM_000428.3(LTBP2):c.5264_5287del (p.Tyr1755_Gly1762del)
NM_000428.3(LTBP2):c.709C>T (p.Arg237Ter)
NM_000428.3(LTBP2):c.744del (p.Ser249fs) rs2139788041
NM_000428.3(LTBP2):c.895C>T (p.Arg299Ter) rs121918355
NM_000428.3(LTBP2):c.972del (p.Asp325fs) rs1420141860

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