ClinVar Miner

List of variants studied for acromesomelic dysplasia by OMIM

Included ClinVar conditions (14):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_000557.5(GDF5):c.1322T>C (p.Leu441Pro) rs28936683 0.00001
NM_003995.4(NPR2):c.1162C>T (p.Arg388Ter) rs121912739 0.00001
GDF5, 22-BP DUP
NM_000557.5(GDF5):c.1133G>A (p.Arg378Gln) rs121909350
NM_000557.5(GDF5):c.1144del (p.Ala382fs) rs1568731526
NM_000557.5(GDF5):c.1199G>A (p.Cys400Tyr) rs74315387
NM_000557.5(GDF5):c.1306C>A (p.Pro436Thr) rs121909351
NM_000557.5(GDF5):c.297dup (p.Arg100fs) rs761962752
NM_000557.5(GDF5):c.[1309_1311del;1315T>A1319A>T]
NM_001203.3(BMPR1B):c.157T>C (p.Cys53Arg) rs863225041
NM_001203.3(BMPR1B):c.361_368del (p.Gly121fs) rs863223287
NM_001203.3(BMPR1B):c.657G>A (p.Trp219Ter) rs863225042
NM_001203.3(BMPR1B):c.91C>T (p.Arg31Cys) rs745854387
NM_003995.4(NPR2):c.1092del (p.Ile364fs) rs879255257
NM_003995.4(NPR2):c.343T>G (p.Trp115Gly) rs28931582
NM_003995.4(NPR2):c.528T>A (p.Asp176Glu) rs28929479
NM_003995.4(NPR2):c.94C>A (p.Pro32Thr) rs28931581
NM_006259.3(PRKG2):c.1705C>T (p.Arg569Ter) rs1291510415
NM_006259.3(PRKG2):c.491dup (p.Asn164fs) rs2110087773

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