ClinVar Miner

List of variants in gene IHH studied for brachydactyly type A1

Included ClinVar conditions (7):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 70
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HGVS dbSNP gnomAD frequency
NM_002181.4(IHH):c.753T>C (p.Pro251=) rs3731881 0.58582
NM_002181.4(IHH):c.600G>A (p.Thr200=) rs3731878 0.10242
NM_002181.4(IHH):c.755A>G (p.His252Arg) rs76479554 0.02052
NM_002181.4(IHH):c.969C>T (p.His323=) rs76578869 0.01963
NM_002181.4(IHH):c.819C>T (p.Pro273=) rs61747697 0.00915
NM_002181.4(IHH):c.315+8C>T rs186249490 0.00278
NM_002181.4(IHH):c.*25G>T rs76709099 0.00219
NM_002181.4(IHH):c.*83A>T rs538403599 0.00219
NM_002181.4(IHH):c.*248C>A rs79195401 0.00201
NM_002181.4(IHH):c.873G>A (p.Arg291=) rs149554120 0.00182
NM_002181.4(IHH):c.618C>T (p.Ala206=) rs3731879 0.00163
NM_002181.3(IHH):c.*785C>T rs566164413 0.00107
NM_002181.4(IHH):c.858G>A (p.Pro286=) rs146055831 0.00083
NM_002181.4(IHH):c.857C>T (p.Pro286Leu) rs140093604 0.00080
NM_002181.4(IHH):c.1169G>A (p.Arg390His) rs150661368 0.00054
NM_002181.4(IHH):c.*199G>A rs773408612 0.00049
NM_002181.4(IHH):c.228G>A (p.Glu76=) rs150747743 0.00048
NM_002181.4(IHH):c.229C>A (p.Arg77Ser) rs142036701 0.00048
NM_002181.4(IHH):c.*596G>A rs746749613 0.00025
NM_002181.4(IHH):c.1130C>T (p.Pro377Leu) rs532767918 0.00015
NM_002181.4(IHH):c.207C>A (p.Gly69=) rs775613506 0.00013
NM_002181.4(IHH):c.702G>A (p.Glu234=) rs201051352 0.00012
NM_002181.4(IHH):c.*267A>T rs879320591 0.00011
NM_002181.4(IHH):c.*300T>C rs1410529350 0.00010
NM_002181.4(IHH):c.1222G>A (p.Gly408Arg) rs200216644 0.00008
NM_002181.4(IHH):c.*13G>A rs534566881 0.00007
NM_002181.4(IHH):c.*423G>A rs956439051 0.00007
NM_002181.4(IHH):c.1221C>T (p.Ser407=) rs774963881 0.00007
NM_002181.4(IHH):c.693C>G (p.Ala231=) rs772887242 0.00005
NM_002181.4(IHH):c.-18C>T rs886055652 0.00003
NM_002181.4(IHH):c.649C>T (p.Arg217Cys) rs1244499290 0.00003
NM_002181.4(IHH):c.909C>T (p.Tyr303=) rs758078057 0.00003
NM_002181.4(IHH):c.540C>T (p.Tyr180=) rs768257762 0.00002
NM_002181.4(IHH):c.*33G>A rs552544696 0.00001
NM_002181.4(IHH):c.*397G>A rs886055649 0.00001
NM_002181.4(IHH):c.-14C>T rs886055651 0.00001
NM_002181.4(IHH):c.567C>T (p.Ser189=) rs769274873 0.00001
NM_002181.4(IHH):c.717C>T (p.Thr239=) rs533532683 0.00001
NM_002181.4(IHH):c.816A>G (p.Thr272=) rs200792119 0.00001
NM_002181.4(IHH):c.*175C>G rs3099
NM_002181.4(IHH):c.*217G>A rs1948816466
NM_002181.4(IHH):c.*246G>C rs1948816288
NM_002181.4(IHH):c.*313C>T rs1948815728
NM_002181.4(IHH):c.*368G>A rs776716315
NM_002181.4(IHH):c.1101T>C (p.Phe367=) rs886055650
NM_002181.4(IHH):c.227A>C (p.Glu76Ala) rs576284122
NM_002181.4(IHH):c.280GAG[1] (p.Glu95del) rs1948868228
NM_002181.4(IHH):c.283G>A (p.Glu95Lys) rs121917852
NM_002181.4(IHH):c.284A>G (p.Glu95Gly) rs121917859
NM_002181.4(IHH):c.291A>C (p.Thr97=) rs1161408444
NM_002181.4(IHH):c.298G>A (p.Asp100Asn) rs121917855
NM_002181.4(IHH):c.300C>A (p.Asp100Glu) rs121917854
NM_002181.4(IHH):c.316C>A (p.Arg106Ser) rs775959009
NM_002181.4(IHH):c.369C>T (p.Pro123=) rs1574687575
NM_002181.4(IHH):c.383G>A (p.Arg128Gln) rs267606873
NM_002181.4(IHH):c.389C>A (p.Thr130Asn) rs267606872
NM_002181.4(IHH):c.391G>A (p.Glu131Lys) rs121917853
NM_002181.4(IHH):c.446G>A (p.Arg149His)
NM_002181.4(IHH):c.448G>A (p.Ala150Thr) rs1948842142
NM_002181.4(IHH):c.461C>T (p.Thr154Ile) rs121917861
NM_002181.4(IHH):c.478C>A (p.Arg160Ser) rs1948842030
NM_002181.4(IHH):c.484A>G (p.Lys162Glu) rs1948841937
NM_002181.4(IHH):c.565_567dup (p.Ser189dup) rs1948841364
NM_002181.4(IHH):c.577+14G>C rs1290500068
NM_002181.4(IHH):c.588C>T (p.Ala196=) rs770515682
NM_002181.4(IHH):c.704A>T (p.Asp235Val) rs774042639
NM_002181.4(IHH):c.799C>A (p.Arg267Ser) rs748379688
NM_002181.4(IHH):c.799C>G (p.Arg267Gly) rs748379688
NM_002181.4(IHH):c.849C>T (p.His283=) rs1457337975
NM_002181.4(IHH):c.910G>T (p.Val304Leu) rs752484924

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