ClinVar Miner

List of variants in gene combination FBN2, LOC126807501 reported as uncertain significance for Congenital contractural arachnodactyly

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Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_001999.4(FBN2):c.2990-14C>T rs377500777 0.00012
NM_001999.4(FBN2):c.3013T>C (p.Leu1005=) rs147633551 0.00009
NM_001999.4(FBN2):c.3061C>T (p.Arg1021Cys) rs541842635 0.00003
NM_001999.4(FBN2):c.2996G>A (p.Arg999His) rs1342942240
NM_001999.4(FBN2):c.3003G>C (p.Glu1001Asp) rs1064797312
NM_001999.4(FBN2):c.3010T>C (p.Tyr1004His)
NM_001999.4(FBN2):c.3019T>C (p.Trp1007Arg)
NM_001999.4(FBN2):c.3039C>G (p.Ile1013Met) rs1388119592
NM_001999.4(FBN2):c.3046G>T (p.Val1016Phe)
NM_001999.4(FBN2):c.3049C>A (p.Pro1017Thr) rs375187779
NM_001999.4(FBN2):c.3057G>C (p.Lys1019Asn) rs863223561
NM_001999.4(FBN2):c.3058T>C (p.Phe1020Leu) rs984782865
NM_001999.4(FBN2):c.3062G>A (p.Arg1021His) rs139620380
NM_001999.4(FBN2):c.3062G>C (p.Arg1021Pro) rs139620380
NM_001999.4(FBN2):c.3066G>A (p.Met1022Ile) rs952236163
NM_001999.4(FBN2):c.3092C>A (p.Ala1031Glu) rs754884110
NM_001999.4(FBN2):c.3106G>C (p.Glu1036Gln) rs773473369
NM_001999.4(FBN2):c.3107A>G (p.Glu1036Gly)
NM_001999.4(FBN2):c.3126A>T (p.Lys1042Asn)
NM_001999.4(FBN2):c.3160C>T (p.Arg1054Cys) rs869025427
NM_001999.4(FBN2):c.3196dup (p.Thr1066fs) rs1554123702
NM_001999.4(FBN2):c.3200G>C (p.Gly1067Ala) rs1751146734
NM_001999.4(FBN2):c.3211T>C (p.Tyr1071His) rs2126913738
NM_001999.4(FBN2):c.3215A>G (p.Lys1072Arg)
NM_001999.4(FBN2):c.3217+1G>A rs2126913719
NM_001999.4(FBN2):c.3217+6T>C

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