ClinVar Miner

List of variants reported as likely benign for Omenn syndrome by Natera, Inc.

Included ClinVar conditions (8):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_000536.4(RAG2):c.1158C>A (p.Phe386Leu) rs34629171 0.01070
NM_001033855.3(DCLRE1C):c.1101A>G (p.Pro367=) rs143782439 0.00085
NM_001033855.3(DCLRE1C):c.306+7A>G rs368317341 0.00085
NM_001033855.3(DCLRE1C):c.1602C>T (p.Ser534=) rs61745540 0.00058
NM_001033855.3(DCLRE1C):c.1623A>C (p.Thr541=) rs41300674 0.00038
NM_000536.4(RAG2):c.477C>T (p.Arg159=) rs141659100 0.00037
NM_001033855.3(DCLRE1C):c.1368C>T (p.Asn456=) rs144654282 0.00021
NM_001033855.3(DCLRE1C):c.1828A>G (p.Lys610Glu) rs575678692 0.00015
NM_001033855.3(DCLRE1C):c.1334G>A (p.Arg445His) rs376186052 0.00014
NM_001033855.3(DCLRE1C):c.161+8A>C rs542719569 0.00006
NM_000536.4(RAG2):c.1443T>C (p.His481=) rs560115611 0.00004
NM_001033855.3(DCLRE1C):c.915G>A (p.Val305=) rs774772480 0.00004
NM_000536.4(RAG2):c.63G>A (p.Leu21=) rs142797325 0.00001
NM_000536.4(RAG2):c.1391G>A (p.Arg464His) rs147748696
NM_001033855.3(DCLRE1C):c.594G>A (p.Pro198=) rs138120763

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