ClinVar Miner

List of variants reported as benign for Fanconi renotubular syndrome

Included ClinVar conditions (11):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 10
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HGVS dbSNP gnomAD frequency
NM_152416.4(NDUFAF6):c.*16T>C rs2678832 0.91518
NM_001482.3(GATM):c.1252T>C (p.Leu418=) rs1145086 0.56264
NM_001482.3(GATM):c.330A>T (p.Gln110His) rs1288775 0.45330
NM_003052.5(SLC34A1):c.774T>C (p.His258=) rs5030873 0.25133
NM_003052.5(SLC34A1):c.389-20C>T rs3812036 0.20052
NM_003052.5(SLC34A1):c.389-5C>T rs189794265 0.01364
NM_003052.5(SLC34A1):c.260-4C>A rs200580283 0.00109
NM_175914.5(HNF4A):c.427-20C>T rs184217112 0.00058
NM_152416.4(NDUFAF6):c.420+15dup rs34960210
NM_152416.4(NDUFAF6):c.421-13_421-12del rs79118993

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