ClinVar Miner

List of variants reported as uncertain significance for congenital contractural arachnodactyly by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_001999.4(FBN2):c.3322A>C (p.Met1108Leu) rs148127874 0.00019
NM_001999.4(FBN2):c.2252A>C (p.Glu751Ala) rs147610681 0.00013
NM_001999.4(FBN2):c.6077C>T (p.Ser2026Phe) rs139668142 0.00012
NM_001999.4(FBN2):c.5983G>A (p.Gly1995Ser) rs145588052 0.00010
NM_001999.4(FBN2):c.8239C>G (p.Leu2747Val) rs145353444 0.00009
NM_001999.4(FBN2):c.8376C>G (p.Ile2792Met) rs142747169 0.00009
NM_001999.4(FBN2):c.5800+5G>A rs375487064 0.00006
NM_001999.4(FBN2):c.1720A>G (p.Ile574Val) rs768073096 0.00005
NM_001999.4(FBN2):c.4102G>A (p.Val1368Met) rs762139261 0.00005
NM_001999.4(FBN2):c.5494C>T (p.Arg1832Cys) rs778519094 0.00005
NM_001999.4(FBN2):c.704C>T (p.Thr235Met) rs367767903 0.00004
NM_001999.4(FBN2):c.8230T>G (p.Tyr2744Asp) rs752138290 0.00004
NM_001999.4(FBN2):c.8444A>C (p.Lys2815Thr) rs757028268 0.00004
NM_001999.4(FBN2):c.1423G>A (p.Gly475Ser) rs200440156 0.00003
NM_001999.4(FBN2):c.3464A>G (p.Asn1155Ser) rs150224718 0.00002
NM_001999.4(FBN2):c.3304A>G (p.Ser1102Gly) rs761012607 0.00001
NM_001999.4(FBN2):c.460A>G (p.Met154Val) rs878854475 0.00001
NM_001999.4(FBN2):c.73G>A (p.Gly25Ser) rs763408652 0.00001
NM_001999.4(FBN2):c.2204A>G (p.Tyr735Cys) rs1199450063
NM_001999.4(FBN2):c.2557A>C (p.Ile853Leu) rs148598779
NM_001999.4(FBN2):c.2779G>A (p.Ala927Thr) rs863223559
NM_001999.4(FBN2):c.3481G>A (p.Glu1161Lys) rs1554123065
NM_001999.4(FBN2):c.6583C>T (p.Arg2195Cys) rs886059896
NM_001999.4(FBN2):c.6680C>T (p.Thr2227Ile) rs863223583
NM_001999.4(FBN2):c.7475T>C (p.Leu2492Pro) rs1056653104

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