ClinVar Miner

List of variants studied for arthrogryposis by Baylor Genetics

Included ClinVar conditions (9):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_002470.4(MYH3):c.2767G>T (p.Val923Leu) rs746388623 0.00014
NM_001999.4(FBN2):c.3437A>G (p.Tyr1146Cys) rs1750918319
NM_001999.4(FBN2):c.3495C>G (p.Asn1165Lys) rs774250442
NM_001999.4(FBN2):c.827-2A>G rs1561461125
NM_001999.4(FBN2):c.8360C>G (p.Thr2787Ser) rs1764978341
NM_001999.4(FBN2):c.844G>A (p.Ala282Thr) rs772005485
NM_002470.4(MYH3):c.2015G>A (p.Arg672His) rs121913617

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