ClinVar Miner

List of variants studied for combined immunodeficiency by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

Included ClinVar conditions (112):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_000536.4(RAG2):c.644C>T (p.Thr215Ile) rs35691292 0.00032
NM_006904.7(PRKDC):c.10172C>T (p.Ala3391Val) rs562934408 0.00008
NM_000051.4(ATM):c.7271T>G (p.Val2424Gly) rs28904921 0.00006
NM_000022.4(ADA):c.478+1G>A rs761242509 0.00003
NM_000051.4(ATM):c.3993+1G>A rs200196781 0.00002
NM_000051.4(ATM):c.9022C>T (p.Arg3008Cys) rs587782292 0.00002
NM_000051.4(ATM):c.1709T>C (p.Phe570Ser) rs777301065 0.00001
NM_000051.4(ATM):c.2467-2A>C rs1555082050 0.00001
NM_000051.4(ATM):c.5633C>T (p.Ser1878Leu) rs758908522 0.00001
NM_000051.4(ATM):c.1215del (p.Asn405fs) rs1555069815
NM_000051.4(ATM):c.3802del (p.Glu1267_Val1268insTer) rs587779834
NM_000051.4(ATM):c.6838_6839dup (p.Gln2280fs) rs2136332542
NM_000051.4(ATM):c.7550del (p.Leu2517fs) rs2136492942
NM_000051.4(ATM):c.7629_7629+4del rs876660041
NM_000051.4(ATM):c.7886_7890del (p.Ile2629fs) rs1450394308
NM_000206.3(IL2RG):c.575_578del (p.Asp192fs)
NM_000206.3(IL2RG):c.75_77del (p.Thr26del) rs758742212
NM_000206.3(IL2RG):c.865C>T (p.Arg289Ter) rs137852508
NM_000377.3(WAS):c.1453G>A (p.Asp485Asn) rs1064793293
NM_000377.3(WAS):c.257G>A (p.Arg86His) rs132630268
NM_000536.4(RAG2):c.1247G>T (p.Trp416Leu) rs193922572
NM_001625.4(AK2):c.84dup (p.Gly29fs) rs1640610158
NM_002691.4(POLD1):c.3244C>T (p.Arg1082Cys) rs1307047144
NM_006785.4(MALT1):c.926_929delGAAG

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