ClinVar Miner

List of variants studied for atypical hemolytic-uremic syndrome by Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago

Included ClinVar conditions (15):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 13
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HGVS dbSNP gnomAD frequency
NM_000204.5(CFI):c.1322A>G (p.Lys441Arg) rs41278047 0.00243
NM_000064.4(C3):c.4855A>C (p.Ser1619Arg) rs2230210 0.00118
NM_000361.3(THBD):c.683C>T (p.Pro228Leu) rs375011249 0.00060
NM_001710.6(CFB):c.658+7T>C rs541260302 0.00049
NM_000361.3(THBD):c.1361T>C (p.Val454Ala) rs147377392 0.00029
NM_000186.4(CFH):c.2461C>T (p.His821Tyr) rs367687415 0.00010
NM_000064.4(C3):c.1758G>A (p.Glu586=) rs764201055 0.00007
NM_000186.4(CFH):c.481G>T (p.Ala161Ser) rs777300338 0.00004
NM_000204.5(CFI):c.1532C>T (p.Ala511Val) rs760801046 0.00004
NM_000064.4(C3):c.2951-5_2951-3del rs544122376
NM_000064.4(C3):c.4947C>T (p.Leu1649=)
NM_000186.4(CFH):c.3306C>G (p.Cys1102Trp)
NM_172351.3(CD46):c.944-1G>C

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