ClinVar Miner

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

Included ClinVar conditions (197):
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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_000372.5(TYR):c.1037-7T>A rs61754381 0.00051
NM_025114.4(CEP290):c.4723A>T (p.Lys1575Ter) rs137852834 0.00009
NM_000372.5(TYR):c.1A>G (p.Met1Val) rs28940881 0.00006
NM_017777.4(MKS1):c.1476T>G (p.Cys492Trp) rs137853105 0.00003
NM_000372.5(TYR):c.265T>C (p.Cys89Arg) rs28940877 0.00002
NM_001042492.3(NF1):c.4330A>G (p.Lys1444Glu) rs137854550 0.00002
NM_153704.6(TMEM67):c.514C>T (p.Arg172Ter) rs765468645 0.00002
NM_001042492.3(NF1):c.2041C>T (p.Arg681Ter) rs768638173 0.00001
NM_017777.4(MKS1):c.1166-2A>C rs1488635637 0.00001
GRCh37/hg19 15q11.2-13.1(chr15:23810397-29213787)
GRCh37/hg19 17p11.2(chr17:16936603-18184130)
GRCh37/hg19 17p13.3(chr17:2339561-2826073)
GRCh37/hg19 1q21.1-21.2(chr1:146618988-147824207)
NM_000539.3(RHO):c.891C>G (p.Ser297Arg) rs142285818
NM_001032221.6(STXBP1):c.364C>T (p.Arg122Ter) rs794727792
NM_001042492.3(NF1):c.1721+3A>G rs1057518904
NM_001098.3(ACO2):c.2253dup (p.Ile752fs) rs2066653512
NM_001184880.2(PCDH19):c.1091dup (p.Tyr366fs) rs758946412
NM_001372066.1(TFAP2A):c.1043_1044del (p.Lys348fs) rs1554110735
NM_015100.4(POGZ):c.2771del (p.Pro924fs) rs1553212868
NM_015335.5(MED13L):c.1971del (p.Asp657fs) rs1555247805
NM_019098.5(CNGB3):c.819_826del (p.Arg274fs) rs775796581
NM_025114.4(CEP290):c.2941C>T (p.Gln981Ter) rs1057518822
m.3700G>A rs397515508

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