ClinVar Miner

List of variants reported as uncertain significance for Immunodeficiency, common variable, 1 by Labcorp Genetics (formerly Invitae), Labcorp

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Total variants: 43
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HGVS dbSNP gnomAD frequency
NM_012092.4(ICOS):c.589G>A (p.Val197Met) rs111644920 0.00037
NM_012092.4(ICOS):c.106G>A (p.Gly36Arg) rs202109644 0.00009
NM_012092.4(ICOS):c.401A>C (p.Gln134Pro) rs367905290 0.00007
NM_012092.4(ICOS):c.512C>A (p.Ser171Tyr) rs780326986 0.00006
NM_012092.4(ICOS):c.356T>C (p.Phe119Ser) rs375299065 0.00002
NM_012092.4(ICOS):c.45T>G (p.Ile15Met) rs762842725 0.00002
NM_012092.4(ICOS):c.584C>T (p.Thr195Ile) rs1044762811 0.00002
NM_012092.4(ICOS):c.59-3C>T rs764098873 0.00002
NM_012092.4(ICOS):c.77C>A (p.Ala26Asp) rs761695473 0.00002
NM_012092.4(ICOS):c.229A>G (p.Ile77Val) rs1048198057 0.00001
NM_012092.4(ICOS):c.271A>G (p.Ser91Gly) rs1314279149 0.00001
NM_012092.4(ICOS):c.496A>G (p.Lys166Glu) rs1297706917 0.00001
NM_012092.4(ICOS):c.523G>A (p.Asp175Asn) rs778908715 0.00001
NM_012092.4(ICOS):c.580C>A (p.Leu194Ile) rs547175222 0.00001
NM_012092.4(ICOS):c.586+3A>G rs377370202 0.00001
NM_012092.4(ICOS):c.71G>T (p.Gly24Val) rs774325808 0.00001
NC_000002.11:g.(?_201943606)_(204824322_?)dup
NC_000002.11:g.(?_204820339)_(204824322_?)del
NM_012092.4(ICOS):c.128A>G (p.Lys43Arg) rs1367837109
NM_012092.4(ICOS):c.13C>T (p.Leu5Phe) rs1689659275
NM_012092.4(ICOS):c.190G>A (p.Asp64Asn)
NM_012092.4(ICOS):c.235A>C (p.Ser79Arg) rs2105754222
NM_012092.4(ICOS):c.24C>A (p.Phe8Leu)
NM_012092.4(ICOS):c.376G>A (p.Gly126Arg) rs2105754334
NM_012092.4(ICOS):c.406T>C (p.Cys136Arg) rs746054383
NM_012092.4(ICOS):c.416T>G (p.Leu139Arg)
NM_012092.4(ICOS):c.41G>A (p.Arg14His) rs776057192
NM_012092.4(ICOS):c.43A>G (p.Ile15Val)
NM_012092.4(ICOS):c.451G>A (p.Val151Ile)
NM_012092.4(ICOS):c.466T>G (p.Leu156Val) rs1690083811
NM_012092.4(ICOS):c.477A>G (p.Ile159Met)
NM_012092.4(ICOS):c.501+6C>G rs4264550
NM_012092.4(ICOS):c.502-6_502-5insG rs1690102674
NM_012092.4(ICOS):c.502A>C (p.Lys168Gln) rs1581607452
NM_012092.4(ICOS):c.509C>T (p.Ser170Leu) rs2105755520
NM_012092.4(ICOS):c.514A>G (p.Ser172Gly) rs2105755531
NM_012092.4(ICOS):c.523G>C (p.Asp175His)
NM_012092.4(ICOS):c.547A>G (p.Met183Val) rs2105755568
NM_012092.4(ICOS):c.562_573del (p.Thr188_Lys191del) rs2105755576
NM_012092.4(ICOS):c.578G>A (p.Arg193Lys)
NM_012092.4(ICOS):c.58+4A>C rs2105741117
NM_012092.4(ICOS):c.586+2T>A rs1559036416
NM_012092.4(ICOS):c.85G>A (p.Glu29Lys) rs977088960

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