ClinVar Miner

List of variants studied for arthrogryposis by OMIM

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_001999.4(FBN2):c.1171G>A (p.Glu391Lys) rs137852826
NM_001999.4(FBN2):c.3343G>C (p.Asp1115His) rs137852827
NM_001999.4(FBN2):c.3425G>T (p.Cys1142Phe) rs137852828
NM_001999.4(FBN2):c.3725-15A>G rs587776519
NM_001999.4(FBN2):c.3758G>A (p.Cys1253Tyr) rs137852825
NM_001999.4(FBN2):c.3759T>G (p.Cys1253Trp) rs28931602
NM_001999.4(FBN2):c.3777T>A (p.Asn1259Lys) rs267606802
NM_001999.4(FBN2):c.3974-26T>G rs2126895611
NM_001999.4(FBN2):c.4346-2A>T rs587776518
NM_002470.4(MYH3):c.2014C>T (p.Arg672Cys) rs121913618
NM_002470.4(MYH3):c.2015G>A (p.Arg672His) rs121913617
NM_002470.4(MYH3):c.2474T>A (p.Val825Asp) rs121913620
NM_002470.4(MYH3):c.533C>T (p.Thr178Ile) rs121913619

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