ClinVar Miner

List of variants reported for Hereditary insensitivity to pain with anhidrosis by Counsyl

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Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_002529.4(NTRK1):c.710C>T (p.Thr237Met) rs55909005 0.01791
NM_002529.4(NTRK1):c.2339G>A (p.Arg780Gln) rs35669708 0.00406
NM_014215.3(INSRR):c.3397+8G>T rs145596747 0.00006
NM_002529.4(NTRK1):c.1428_1430dup (p.Ser477dup) rs762942184 0.00004
NM_002529.4(NTRK1):c.2281C>T (p.Arg761Trp) rs759637817 0.00001
NM_002529.4(NTRK1):c.1196-1G>A rs764171953
NM_014215.3(INSRR):c.3397+17G>T rs139555558

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