ClinVar Miner

List of variants studied for Multiple synostoses syndrome 2 by Illumina Laboratory Services, Illumina

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Total variants: 39
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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_000557.5(GDF5):c.826= (p.Ala276=) rs224331 0.38490
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_000557.5(GDF5):c.349G>T (p.Ala117Ser) rs151149144 0.00539
NM_000557.5(GDF5):c.652A>C (p.Arg218=) rs116467702 0.00240
NM_000557.5(GDF5):c.*520T>C rs188252641 0.00238
NM_000557.5(GDF5):c.462C>A (p.Pro154=) rs150686636 0.00236
NM_000557.5(GDF5):c.-134C>G rs144924248 0.00155
NM_000557.5(GDF5):c.1128G>T (p.Gln376His) rs138130158 0.00057
NM_000557.5(GDF5):c.-39C>T rs149907722 0.00029
NM_000557.5(GDF5):c.953G>C (p.Arg318Pro) rs201590447 0.00026
NM_000557.5(GDF5):c.855C>T (p.Gly285=) rs149593773 0.00025
NM_000557.5(GDF5):c.*259G>C rs150833046 0.00016
NM_000557.5(GDF5):c.-220C>T rs886056643 0.00010
NM_000557.5(GDF5):c.*387T>C rs553655935 0.00004
NM_000557.5(GDF5):c.*389C>T rs535023630 0.00004
NM_000557.5(GDF5):c.-236G>A rs1190526111 0.00004
NM_000557.5(GDF5):c.206C>G (p.Ala69Gly) rs542574339 0.00002
NM_000557.5(GDF5):c.25T>C (p.Phe9Leu) rs373973964 0.00002
NM_000557.5(GDF5):c.*166G>A rs569761315 0.00001
NM_000557.5(GDF5):c.1067A>G (p.Asn356Ser) rs367914931 0.00001
NM_000557.5(GDF5):c.1104C>T (p.Thr368=) rs748907807 0.00001
NM_000557.5(GDF5):c.1374C>G (p.Pro458=) rs776415223 0.00001
NM_000557.5(GDF5):c.226G>T (p.Ala76Ser) rs768978933 0.00001
NM_000557.5(GDF5):c.483G>A (p.Pro161=) rs752789551 0.00001
NM_000557.5(GDF5):c.57G>T (p.Leu19=) rs746980493 0.00001
NM_000557.5(GDF5):c.631+6G>A rs768697784 0.00001
NM_000557.5(GDF5):c.-97T>C rs960967052
NM_000557.5(GDF5):c.1000C>G (p.Arg334Gly) rs140895068
NM_000557.5(GDF5):c.168C>A (p.Asn56Lys) rs199666386
NM_000557.5(GDF5):c.182G>A (p.Gly61Glu) rs1601074882
NM_000557.5(GDF5):c.506C>A (p.Pro169His) rs2062477372

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