ClinVar Miner

List of variants studied for combined immunodeficiency by Laboratory of Medical Genetics, National & Kapodistrian University of Athens

Included ClinVar conditions (112):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_000051.4(ATM):c.1236-2A>T rs80159221 0.00008
NM_000051.4(ATM):c.5932G>T (p.Glu1978Ter) rs587779852 0.00004
NM_000051.4(ATM):c.8147T>C (p.Val2716Ala) rs587782652 0.00004
NM_000448.3(RAG1):c.2095C>T (p.Arg699Trp) rs199474676 0.00002
NM_000022.4(ADA):c.631C>T (p.Arg211Cys) rs121908740 0.00001
NM_000051.4(ATM):c.3576G>A (p.Lys1192=) rs587776551 0.00001
NM_000051.4(ATM):c.6679C>T (p.Arg2227Cys) rs564652222 0.00001
NM_000022.4(ADA):c.993dup (p.Ser332fs)
NM_000051.4(ATM):c.2135C>A (p.Ser712Ter)
NM_000051.4(ATM):c.8249del (p.Lys2749_Leu2750insTer) rs1565543844
NM_000206.3(IL2RG):c.257C>A (p.Thr86Asn)
NM_000377.3(WAS):c.1001del (p.Gly334fs) rs1569494025
NM_001033855.3(DCLRE1C):c.1147C>T (p.Arg383Ter)
NM_001033855.3(DCLRE1C):c.413G>C (p.Arg138Thr)

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