ClinVar Miner

List of variants reported as uncertain significance for autosomal dominant keratitis-ichthyosis-hearing loss syndrome by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 14
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HGVS dbSNP gnomAD frequency
NM_004004.6(GJB2):c.*115A>C rs557953001 0.00058
NM_004004.6(GJB2):c.670A>C (p.Lys224Gln) rs111033194 0.00015
NM_004004.6(GJB2):c.-1G>A rs768338285 0.00006
NM_004004.6(GJB2):c.326G>A (p.Gly109Glu) rs374572413 0.00005
NM_004004.6(GJB2):c.587T>C (p.Ile196Thr) rs765172751 0.00004
NM_004004.6(GJB2):c.663G>C (p.Lys221Asn) rs375599392 0.00004
NM_004004.6(GJB2):c.88A>G (p.Ile30Val) rs374625633 0.00004
NM_004004.6(GJB2):c.476A>T (p.Asp159Val) rs28931592 0.00003
NM_004004.6(GJB2):c.571T>C (p.Phe191Leu) rs397516878 0.00003
NM_004004.6(GJB2):c.677T>G (p.Val226Gly) rs773846324 0.00002
NM_004004.6(GJB2):c.14C>T (p.Thr5Met) rs781085903 0.00001
NM_004004.6(GJB2):c.188T>C (p.Val63Ala) rs727504309 0.00001
NM_004004.6(GJB2):c.512C>T (p.Ala171Val) rs1555341850 0.00001
NM_004004.6(GJB2):c.400T>C (p.Trp134Arg) rs878853241

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