ClinVar Miner

List of variants studied for X-linked hereditary sensory and autonomic neuropathy with hearing loss by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_004208.4(AIFM1):c.1833T>C (p.His611=) rs73556209 0.00551
NM_004208.4(AIFM1):c.103C>T (p.Pro35Ser) rs61730896 0.00489
NM_004208.4(AIFM1):c.1227T>G (p.Thr409=) rs61730898 0.00188
NM_004208.4(AIFM1):c.606-15C>T rs191297808 0.00109
NM_004208.4(AIFM1):c.170C>G (p.Ser57Cys) rs201711375 0.00010
NM_004208.4(AIFM1):c.1693A>G (p.Ile565Val) rs1375125488 0.00001
NM_004208.4(AIFM1):c.597A>G (p.Lys199=) rs143670174

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