ClinVar Miner

List of variants reported as benign for acromesomelic dysplasia

Included ClinVar conditions (14):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 42
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HGVS dbSNP gnomAD frequency
NM_000557.5(GDF5):c.-48= rs143384 0.56056
NM_000557.5(GDF5):c.-275= rs143383 0.53070
NM_001203.3(BMPR1B):c.*141C>T rs1434536 0.45277
NM_000557.5(GDF5):c.826= (p.Ala276=) rs224331 0.38490
NM_003995.4(NPR2):c.18T>C (p.Leu6=) rs2228580 0.28033
NM_003995.4(NPR2):c.1794C>T (p.Tyr598=) rs5812 0.27923
NM_000557.5(GDF5):c.1017= (p.Lys339=) rs224330 0.10244
NM_000557.5(GDF5):c.*335A>C rs73611720 0.09512
NM_000557.5(GDF5):c.*425T>C rs56366915 0.04970
NM_000557.5(GDF5):c.497C>A (p.Pro166His) rs61754581 0.03081
NM_000557.5(GDF5):c.*193G>T rs114832948 0.02139
NM_000557.5(GDF5):c.-135G>A rs73094730 0.02106
NM_000557.5(GDF5):c.*468G>A rs79051206 0.00818
NM_001203.3(BMPR1B):c.705C>T (p.Thr235=) rs56083112 0.00784
NM_000557.5(GDF5):c.349G>T (p.Ala117Ser) rs151149144 0.00539
NM_003995.4(NPR2):c.668-4C>A rs61758517 0.00383
NM_003995.4(NPR2):c.873+13C>A rs61758520 0.00377
NM_001203.3(BMPR1B):c.1476C>T (p.Ala492=) rs140430323 0.00163
NM_003995.4(NPR2):c.2434T>C (p.Leu812=) rs115119353 0.00161
NM_001203.3(BMPR1B):c.586-18T>G rs80218727 0.00115
NM_000557.5(GDF5):c.1128G>T (p.Gln376His) rs138130158 0.00057
NM_001203.3(BMPR1B):c.1384-8T>C rs201359647 0.00041
NM_003995.4(NPR2):c.999C>T (p.Ile333=) rs28764009 0.00029
NM_001203.3(BMPR1B):c.445C>T (p.Arg149Trp) rs34231464 0.00024
NM_003995.4(NPR2):c.2643+10A>G rs200486126 0.00022
NM_001203.3(BMPR1B):c.74C>G (p.Pro25Arg) rs145700191 0.00019
NM_003995.4(NPR2):c.2519+15C>T rs370934186 0.00016
NM_003995.4(NPR2):c.2519+9T>C rs185385838 0.00016
NM_001203.3(BMPR1B):c.901A>G (p.Met301Val) rs199613098 0.00014
NM_003995.4(NPR2):c.2359C>T (p.Arg787Trp) rs114147262 0.00013
NM_003995.4(NPR2):c.1633-10C>A rs201550050 0.00012
NM_001203.3(BMPR1B):c.16G>A (p.Ala6Thr) rs143885868 0.00009
NM_001203.3(BMPR1B):c.891C>T (p.Asp297=) rs112111860 0.00009
NM_001203.3(BMPR1B):c.670C>T (p.Arg224Cys) rs777745046 0.00002
NM_003995.4(NPR2):c.2047+11C>T rs200583592 0.00002
NM_001203.3(BMPR1B):c.1102C>T (p.Pro368Ser) rs577188671 0.00001
NM_001203.3(BMPR1B):c.247-4A>G rs570808649 0.00001
NM_001203.3(BMPR1B):c.906G>C (p.Leu302=)
NM_001354587.1(ANKRD36):c.5731dup (p.Gln1911fs) rs752428198
NM_003995.4(NPR2):c.2712+11_2712+19del rs58759471
NM_003995.4(NPR2):c.2901T>G (p.Ala967=)
NM_003995.4(NPR2):c.915G>A (p.Glu305=) rs773637376

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