ClinVar Miner

List of variants reported as likely pathogenic for Hereditary insensitivity to pain with anhidrosis

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Total variants: 8
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HGVS dbSNP
NM_002529.3(NTRK1):c.1040G>C (p.Arg347Pro) rs797045060
NM_002529.3(NTRK1):c.1196-1G>A rs764171953
NM_002529.3(NTRK1):c.1196-3_1196-1del rs1558104865
NM_002529.3(NTRK1):c.2046+1G>T rs1452844753
NM_002529.3(NTRK1):c.2046+3A>C
NM_002529.3(NTRK1):c.2084C>T (p.Pro695Leu) rs121964868
NM_002529.3(NTRK1):c.2281C>T (p.Arg761Trp) rs759637817
NM_002529.3(NTRK1):c.354_359+3del

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