ClinVar Miner

List of variants reported as uncertain significance for acromesomelic dysplasia by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (14):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 4
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HGVS dbSNP gnomAD frequency
NM_003995.4(NPR2):c.830A>G (p.Asn277Ser) rs770531192 0.00011
NM_000557.5(GDF5):c.1198_1200dup (p.Cys400dup) rs760180391
NM_001203.3(BMPR1B):c.1239A>T (p.Arg413Ser)
NM_003995.4(NPR2):c.1123G>A (p.Gly375Ser) rs1828095529

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