ClinVar Miner

List of variants in gene LOC130063979, PIK3R2 studied for non-syndromic polydactyly

Included ClinVar conditions (43):
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Total variants: 51
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HGVS dbSNP gnomAD frequency
NM_005027.4(PIK3R2):c.700A>C (p.Ser234Arg) rs2241088 0.93443
NM_005027.4(PIK3R2):c.700= (p.Ser234=) rs2241088 0.06557
NM_005027.4(PIK3R2):c.696G>A (p.Val232=) rs571661207 0.00101
NM_005027.4(PIK3R2):c.691C>T (p.Arg231Cys) rs558127851 0.00095
NM_005027.4(PIK3R2):c.657G>A (p.Ala219=) rs772272053 0.00037
NM_005027.4(PIK3R2):c.706G>A (p.Ala236Thr) rs941281903 0.00012
NM_005027.4(PIK3R2):c.527G>A (p.Ser176Asn) rs111848145 0.00009
NM_005027.4(PIK3R2):c.564C>G (p.Pro188=) rs756748269 0.00005
NM_005027.4(PIK3R2):c.734C>A (p.Ala245Asp) rs897040629 0.00003
NM_005027.4(PIK3R2):c.553C>G (p.Leu185Val) rs1016301486 0.00001
NM_005027.4(PIK3R2):c.586C>T (p.Arg196Trp) rs770193876 0.00001
NM_005027.4(PIK3R2):c.598+20C>T rs1287594814 0.00001
NM_005027.4(PIK3R2):c.672C>T (p.Phe224=) rs977691358 0.00001
NM_005027.4(PIK3R2):c.517G>A (p.Gly173Ser)
NM_005027.4(PIK3R2):c.546C>G (p.Pro182=)
NM_005027.4(PIK3R2):c.560C>A (p.Thr187Asn)
NM_005027.4(PIK3R2):c.565G>A (p.Glu189Lys)
NM_005027.4(PIK3R2):c.571_572inv (p.Ser191Glu)
NM_005027.4(PIK3R2):c.576dup (p.Glu193fs)
NM_005027.4(PIK3R2):c.583C>T (p.Arg195Cys)
NM_005027.4(PIK3R2):c.595C>T (p.Arg199Trp)
NM_005027.4(PIK3R2):c.598+11C>T
NM_005027.4(PIK3R2):c.598+12G>A
NM_005027.4(PIK3R2):c.598+15T>C
NM_005027.4(PIK3R2):c.598+2T>G
NM_005027.4(PIK3R2):c.599-12A>G
NM_005027.4(PIK3R2):c.608G>T (p.Gly203Val)
NM_005027.4(PIK3R2):c.618G>A (p.Gly206=)
NM_005027.4(PIK3R2):c.618G>T (p.Gly206=)
NM_005027.4(PIK3R2):c.655G>A (p.Ala219Thr)
NM_005027.4(PIK3R2):c.694G>A (p.Val232Met)
NM_005027.4(PIK3R2):c.695T>G (p.Val232Gly) rs2147950675
NM_005027.4(PIK3R2):c.720T>C (p.Gly240=) rs2043744166
NM_005027.4(PIK3R2):c.721C>A (p.Pro241Thr) rs1168878327
NM_005027.4(PIK3R2):c.721_741dup (p.Gly247_Ala248insProAlaValArgAlaLeuGly)
NM_005027.4(PIK3R2):c.730C>A (p.Arg244=)
NM_005027.4(PIK3R2):c.747C>T (p.Thr249=)
NM_005027.4(PIK3R2):c.755C>A (p.Pro252Gln)
NM_005027.4(PIK3R2):c.766_783dup (p.Pro261_Ser262insArgAlaProProProPro)
NM_005027.4(PIK3R2):c.772CCG[3] (p.Pro261del) rs1173823214
NM_005027.4(PIK3R2):c.777G>A (p.Pro259=)
NM_005027.4(PIK3R2):c.778C>T (p.Pro260Ser)
NM_005027.4(PIK3R2):c.780G>A (p.Pro260=)
NM_005027.4(PIK3R2):c.780_797dup (p.Pro266_Gly267insProSerSerProProPro)
NM_005027.4(PIK3R2):c.783_785dup (p.Ser263_Pro264insSer)
NM_005027.4(PIK3R2):c.783_797dup (p.Pro266_Gly267insSerSerProProPro)
NM_005027.4(PIK3R2):c.810C>T (p.Pro270=)
NM_005027.4(PIK3R2):c.811G>T (p.Asp271Tyr)
NM_005027.4(PIK3R2):c.815+20C>T
NM_005027.4(PIK3R2):c.815+5GGGGC[3] rs1008971604
NM_005027.4(PIK3R2):c.815+7G>A rs2147950994

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