ClinVar Miner

List of variants in gene SPTLC2 reported as likely benign for Hereditary sensory and autonomic neuropathy type IC

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Total variants: 17
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HGVS dbSNP
NM_004863.3(SPTLC2):c.*2936_*2938dup rs200856836
NM_004863.3(SPTLC2):c.*3882_*3884delGTT rs544851038
NM_004863.3(SPTLC2):c.*5989dup rs149453307
NM_004863.3(SPTLC2):c.-30G>A rs142320856
NM_004863.3(SPTLC2):c.1050C>T (p.Gly350=) rs539265514
NM_004863.3(SPTLC2):c.1172A>G (p.Lys391Arg) rs114940503
NM_004863.3(SPTLC2):c.1239T>C (p.Pro413=) rs140041902
NM_004863.3(SPTLC2):c.1303+9T>G rs757545220
NM_004863.3(SPTLC2):c.1320A>G (p.Gln440=) rs377233305
NM_004863.3(SPTLC2):c.1470C>T (p.Asn490=) rs374657234
NM_004863.3(SPTLC2):c.414C>T (p.Ile138=) rs1364157223
NM_004863.3(SPTLC2):c.432C>T (p.Ala144=) rs139381733
NM_004863.3(SPTLC2):c.561A>G (p.Ser187=) rs143934634
NM_004863.3(SPTLC2):c.723G>A (p.Thr241=) rs114519796
NM_004863.3(SPTLC2):c.747T>C (p.Leu249=) rs148535125
NM_004863.3(SPTLC2):c.851-5T>C rs199867946
NM_004863.3(SPTLC2):c.900G>A (p.Gln300=) rs571524943

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