ClinVar Miner

List of variants reported as not provided for acromelic dysplasia by GenomeConnect, ClinGen

Included ClinVar conditions (61):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_000138.5(FBN1):c.3509G>A (p.Arg1170His) rs137854475 0.00168
NM_019023.5(PRMT7):c.1056-1G>T rs201824659 0.00008
NM_000138.5(FBN1):c.3026C>G (p.Pro1009Arg) rs148076256 0.00002
NM_019023.5(PRMT7):c.820C>T (p.Arg274Ter) rs372375423 0.00001
NM_001130144.3(LTBP3):c.1072G>A (p.Glu358Lys) rs913431428
NM_001130144.3(LTBP3):c.2893+1G>T rs2135125210
NM_001130144.3(LTBP3):c.76CTG[9] (p.Leu35del) rs71036212
NM_002734.5(PRKAR1A):c.1102C>T (p.Arg368Ter) rs387906692
NM_014112.5(TRPS1):c.1630C>T (p.Arg544Ter) rs886040971

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