ClinVar Miner

List of variants studied for Common variable immunodeficiency 1 by Invitae

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Total variants: 30
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HGVS dbSNP
NM_012092.3(ICOS):c.105C>T (p.Asn35=) rs201031378
NM_012092.3(ICOS):c.150A>G (p.Gln50=) rs55972840
NM_012092.3(ICOS):c.186C>T (p.Leu62=) rs1553499319
NM_012092.3(ICOS):c.394+2T>C rs1559035937
NM_012092.3(ICOS):c.401A>C (p.Gln134Pro) rs367905290
NM_012092.3(ICOS):c.40C>T (p.Arg14Cys) rs77411896
NM_012092.3(ICOS):c.451G>C (p.Val151Leu) rs76778263
NM_012092.3(ICOS):c.501+6C>G rs4264550
NM_012092.3(ICOS):c.501+7G>A rs57149344
NM_012092.3(ICOS):c.502A>C (p.Lys168Gln) rs1581607452
NM_012092.3(ICOS):c.531C>T (p.Asn177=) rs370645286
NM_012092.3(ICOS):c.58+1G>A rs757598952
NM_012092.3(ICOS):c.58+9T>G rs140049646
NM_012092.3(ICOS):c.586+2T>A rs1559036416
NM_012092.3(ICOS):c.589G>A (p.Val197Met) rs111644920
NM_012092.3(ICOS):c.591G>A (p.Val197=) rs55655222
NM_012092.4(ICOS):c.106G>A (p.Gly36Arg) rs0
NM_012092.4(ICOS):c.128A>G (p.Lys43Arg) rs0
NM_012092.4(ICOS):c.13C>T (p.Leu5Phe) rs0
NM_012092.4(ICOS):c.181del (p.Ile61fs) rs0
NM_012092.4(ICOS):c.229A>G (p.Ile77Val) rs0
NM_012092.4(ICOS):c.271A>G (p.Ser91Gly) rs0
NM_012092.4(ICOS):c.375A>G (p.Gly125=) rs768500706
NM_012092.4(ICOS):c.45T>G (p.Ile15Met) rs0
NM_012092.4(ICOS):c.512C>A (p.Ser171Tyr) rs0
NM_012092.4(ICOS):c.523G>A (p.Asp175Asn) rs0
NM_012092.4(ICOS):c.586+3A>G rs0
NM_012092.4(ICOS):c.71G>T (p.Gly24Val) rs0
NM_012092.4(ICOS):c.77C>A (p.Ala26Asp) rs0
NM_012092.4(ICOS):c.93T>C (p.Phe31=) rs147754976

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