ClinVar Miner

List of variants reported as uncertain significance for cranial nerve neuropathy by Centre for Mendelian Genomics, University Medical Centre Ljubljana

Included ClinVar conditions (197):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 17
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HGVS dbSNP gnomAD frequency
NM_001098.3(ACO2):c.719G>C (p.Gly240Ala) rs141878785 0.00064
NM_033409.4(SLC52A3):c.58A>C (p.Ile20Leu) rs148387972 0.00010
NM_000180.4(GUCY2D):c.1315G>A (p.Gly439Arg) rs140638938 0.00006
NM_006796.3(AFG3L2):c.2030T>C (p.Leu677Pro) rs778455371 0.00002
NM_000089.4(COL1A2):c.280-7T>C rs750868020 0.00001
NM_000273.3(GPR143):c.947G>A (p.Cys316Tyr) rs1348263627 0.00001
NM_001042492.3(NF1):c.1987G>A (p.Gly663Arg) rs140653372 0.00001
NM_001098.3(ACO2):c.76C>T (p.Leu26=) rs1057518832 0.00001
NM_001822.7(CHN1):c.962G>C (p.Arg321Thr) rs202153128 0.00001
GRCh37/hg19 6p24.1-23(chr6:12536624-13968949)
GRCh37/hg19 7q36.3(chr7:156333296-156556779)
GRCh37/hg19 7q36.3(chr7:156656444-156866708)
GRCh37/hg19 9q31.3(chr9:111624558-111812725)
NC_012920.1:m.11443A>C rs1556423952
NM_001098.3(ACO2):c.75C>T (p.Val25=) rs1057518833
NM_001379110.1(SLC9A6):c.1190C>A (p.Ala397Glu) rs1556619324
NM_001999.4(FBN2):c.7663A>G (p.Thr2555Ala) rs1765343397

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