ClinVar Miner

List of variants studied for X-linked hereditary sensory and autonomic neuropathy with deafness

Included ClinVar conditions (2):
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Total variants: 18
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NM_004208.4(AIFM1):c.-123G>C rs724160014
NM_004208.4(AIFM1):c.1030C>T (p.Leu344Phe) rs184474885
NM_004208.4(AIFM1):c.1078G>C (p.Gly360Arg) rs724160026
NM_004208.4(AIFM1):c.1097A>G (p.Asn366Ser) rs724160019
NM_004208.4(AIFM1):c.1113C>T (p.Ser371=) rs724160027
NM_004208.4(AIFM1):c.1264C>T (p.Arg422Trp) rs724160020
NM_004208.4(AIFM1):c.1265G>A (p.Arg422Gln) rs724160021
NM_004208.4(AIFM1):c.1319C>T (p.Ala440Val) rs724160025
NM_004208.4(AIFM1):c.1352G>A (p.Arg451Gln) rs863225431
NM_004208.4(AIFM1):c.1424C>T (p.Pro475Leu) rs724160022
NM_004208.4(AIFM1):c.1492G>A (p.Val498Met) rs724160023
NM_004208.4(AIFM1):c.1678T>C (p.Tyr560His) rs724160024
NM_004208.4(AIFM1):c.170C>G (p.Ser57Cys) rs201711375
NM_004208.4(AIFM1):c.434C>T (p.Ala145Val) rs724160015
NM_004208.4(AIFM1):c.572_573delinsCT (p.Leu191Pro) rs724160016
NM_004208.4(AIFM1):c.778A>G (p.Thr260Ala) rs863225432
NM_004208.4(AIFM1):c.845C>T (p.Thr282Met) rs724160017
NM_004208.4(AIFM1):c.860T>C (p.Ile287Thr) rs724160018

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