ClinVar Miner

List of variants studied for acromelic dysplasia by Baylor Genetics

Included ClinVar conditions (61):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 37
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HGVS dbSNP gnomAD frequency
NM_139057.4(ADAMTS17):c.548A>G (p.Lys183Arg) rs146934810 0.00209
NM_019023.5(PRMT7):c.499G>A (p.Val167Met) rs138763605 0.00007
NM_002734.5(PRKAR1A):c.1024C>T (p.Arg342Cys) rs146383819 0.00006
NM_002734.5(PRKAR1A):c.596G>A (p.Ser199Asn) rs755798109 0.00006
NM_019023.5(PRMT7):c.1726G>A (p.Glu576Lys) rs377019678 0.00006
NM_024600.6(TMEM204):c.539C>T (p.Thr180Met) rs369025963 0.00004
NM_019023.5(PRMT7):c.1078C>T (p.Arg360Cys) rs775110866 0.00003
NM_002734.5(PRKAR1A):c.220C>T (p.Arg74Cys) rs137853303 0.00002
NM_000138.5(FBN1):c.8543A>C (p.Lys2848Thr) rs765839151 0.00001
NM_002734.5(PRKAR1A):c.37C>T (p.Arg13Cys) rs1177674637 0.00001
NM_002734.5(PRKAR1A):c.71A>G (p.Lys24Arg) rs763158372 0.00001
NM_002734.5(PRKAR1A):c.94A>G (p.Lys32Glu) rs756985434 0.00001
NM_005359.6(SMAD4):c.1486C>T (p.Arg496Cys) rs397518413 0.00001
NM_014714.4(IFT140):c.2945G>A (p.Arg982Gln) rs766316995 0.00001
GRCh37/hg19 16p13.3(chr16:1557663-1561126)
NM_000138.5(FBN1):c.5885A>G (p.Tyr1962Cys) rs1346043320
NM_000516.7(GNAS):c.1107_1108del (p.Asn371fs) rs2091380655
NM_000516.7(GNAS):c.320T>G (p.Val107Gly)
NM_000516.7(GNAS):c.34C>T (p.Gln12Ter) rs797045046
NM_000516.7(GNAS):c.432+1G>A rs1555889131
NM_000516.7(GNAS):c.847C>T (p.Arg283Cys)
NM_002181.4(IHH):c.88C>A (p.Pro30Thr) rs1574689457
NM_002734.5(PRKAR1A):c.125G>A (p.Arg42Gln) rs746486900
NM_002734.5(PRKAR1A):c.355C>A (p.Pro119Thr) rs1253034687
NM_002734.5(PRKAR1A):c.416C>T (p.Ser139Leu)
NM_002734.5(PRKAR1A):c.46C>T (p.Arg16Ter) rs886041228
NM_002734.5(PRKAR1A):c.562A>T (p.Asn188Tyr)
NM_002734.5(PRKAR1A):c.571G>A (p.Ala191Thr) rs1555814054
NM_002734.5(PRKAR1A):c.647A>C (p.Lys216Thr)
NM_002734.5(PRKAR1A):c.658A>G (p.Asn220Asp) rs2085773408
NM_005359.6(SMAD4):c.1498A>G (p.Ile500Val) rs281875322
NM_014112.5(TRPS1):c.1630C>T (p.Arg544Ter) rs886040971
NM_014112.5(TRPS1):c.3350T>C (p.Phe1117Ser) rs1812867470
NM_019023.5(PRMT7):c.282+3A>G rs2082913032
NM_030957.4(ADAMTS10):c.2632G>A (p.Ala878Thr) rs1197418432
NM_030957.4(ADAMTS10):c.3002G>A (p.Arg1001His) rs2042408557
NM_080425.4(GNAS):c.253T>C (p.Phe85Leu) rs747636634

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