ClinVar Miner

List of variants in gene IHH reported as benign for Brachydactyly type A1

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Gene type:
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Total variants: 26
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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.228G>A (p.Glu76=) rs150747743 0.00048
NM_002181.4(IHH):c.229C>A (p.Arg77Ser) rs142036701 0.00048
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.1222G>A (p.Gly408Arg) rs200216644 0.00008
NM_002181.4(IHH):c.*13G>A rs534566881 0.00007
NM_002181.4(IHH):c.909C>T (p.Tyr303=) rs758078057 0.00003
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.227A>C (p.Glu76Ala) rs576284122
NM_002181.4(IHH):c.588C>T (p.Ala196=) rs770515682

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