ClinVar Miner

List of variants in gene combination FBN2, LOC126807501 reported as likely benign for Congenital contractural arachnodactyly

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Gene type:
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Total variants: 39
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HGVS dbSNP gnomAD frequency
NM_001999.4(FBN2):c.3087C>T (p.Val1029=) rs777392642 0.00034
NM_001999.4(FBN2):c.2990-14C>T rs377500777 0.00012
NM_001999.4(FBN2):c.3217+13G>A rs572013507 0.00010
NM_001999.4(FBN2):c.3045C>T (p.Pro1015=) rs371640952 0.00006
NM_001999.4(FBN2):c.3149C>T (p.Thr1050Met) rs150506063 0.00005
NM_001999.4(FBN2):c.3093G>A (p.Ala1031=) rs528529593 0.00003
NM_001999.4(FBN2):c.2990-8C>T rs370825177 0.00002
NM_001999.4(FBN2):c.3041A>C (p.His1014Pro) rs551801199 0.00002
NM_001999.4(FBN2):c.3092C>T (p.Ala1031Val) rs754884110 0.00002
NM_001999.4(FBN2):c.3150G>A (p.Thr1050=) rs201631085 0.00002
NM_001999.4(FBN2):c.2990-13G>A rs375326505 0.00001
NM_001999.4(FBN2):c.3054A>G (p.Gly1018=) rs1255532545 0.00001
NM_001999.4(FBN2):c.3106G>A (p.Glu1036Lys) rs773473369 0.00001
NM_001999.4(FBN2):c.3114G>C (p.Glu1038Asp) rs199938409 0.00001
NM_001999.4(FBN2):c.3145G>A (p.Glu1049Lys) rs771853346 0.00001
NM_001999.4(FBN2):c.2990-7G>C rs1245936560
NM_001999.4(FBN2):c.2993T>A (p.Ile998Asn)
NM_001999.4(FBN2):c.2994T>A (p.Ile998=)
NM_001999.4(FBN2):c.2997C>T (p.Arg999=) rs1751155993
NM_001999.4(FBN2):c.3012C>T (p.Tyr1004=)
NM_001999.4(FBN2):c.3018G>A (p.Lys1006=)
NM_001999.4(FBN2):c.3045C>G (p.Pro1015=) rs371640952
NM_001999.4(FBN2):c.3057G>T (p.Lys1019Asn) rs863223561
NM_001999.4(FBN2):c.3062G>A (p.Arg1021His) rs139620380
NM_001999.4(FBN2):c.3093G>C (p.Ala1031=) rs528529593
NM_001999.4(FBN2):c.3128C>A (p.Pro1043His)
NM_001999.4(FBN2):c.3145G>C (p.Glu1049Gln) rs771853346
NM_001999.4(FBN2):c.3147G>A (p.Glu1049=) rs1356177204
NM_001999.4(FBN2):c.3161G>A (p.Arg1054His) rs753760095
NM_001999.4(FBN2):c.3161G>T (p.Arg1054Leu) rs753760095
NM_001999.4(FBN2):c.3162C>A (p.Arg1054=)
NM_001999.4(FBN2):c.3198T>G (p.Thr1066=) rs2126913781
NM_001999.4(FBN2):c.3202C>T (p.Arg1068Trp)
NM_001999.4(FBN2):c.3203G>A (p.Arg1068Gln) rs563921589
NM_001999.4(FBN2):c.3207A>G (p.Pro1069=)
NM_001999.4(FBN2):c.3217+12C>T
NM_001999.4(FBN2):c.3217+13G>C rs572013507
NM_001999.4(FBN2):c.3217+19C>T
NM_001999.4(FBN2):c.3217+8C>A rs1554123700

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