ClinVar Miner

List of variants reported as likely benign for hereditary sensory and autonomic neuropathy type 5

Included ClinVar conditions (1):
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Total variants: 60
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HGVS dbSNP gnomAD frequency
NM_002506.3(NGF):c.239G>A (p.Arg80Gln) rs11466111 0.01173
NM_002506.3(NGF):c.214G>A (p.Val72Met) rs11466110 0.00727
NM_002506.3(NGF):c.78C>T (p.Val26=) rs150188752 0.00177
NM_002506.3(NGF):c.284G>A (p.Arg95His) rs150136942 0.00106
NM_002506.3(NGF):c.553G>A (p.Val185Ile) rs141889164 0.00039
NM_002506.3(NGF):c.165G>A (p.Pro55=) rs149876217 0.00018
NM_002506.3(NGF):c.315C>T (p.Phe105=) rs779678303 0.00006
NM_002506.3(NGF):c.393C>T (p.Gly131=) rs778162180 0.00006
NM_002506.3(NGF):c.552C>T (p.Pro184=) rs532714783 0.00006
NM_002506.3(NGF):c.561C>T (p.Ser187=) rs779744960 0.00006
NM_002506.3(NGF):c.420C>T (p.Ser140=) rs751386981 0.00005
NM_002506.3(NGF):c.159C>T (p.Ser53=) rs376241395 0.00004
NM_002506.3(NGF):c.321C>T (p.Val107=) rs202005277 0.00004
NM_002506.3(NGF):c.480G>A (p.Leu160=) rs1175374447 0.00004
NM_002506.3(NGF):c.173C>T (p.Ala58Val) rs201861727 0.00003
NM_002506.3(NGF):c.402G>A (p.Ser134=) rs565841831 0.00003
NM_002506.3(NGF):c.174G>A (p.Ala58=) rs147326889 0.00001
NM_002506.3(NGF):c.186C>T (p.Arg62=) rs780432648 0.00001
NM_002506.3(NGF):c.219C>T (p.Asp73=) rs780383333 0.00001
NM_002506.3(NGF):c.246C>T (p.Leu82=) rs765918245 0.00001
NM_002506.3(NGF):c.318G>A (p.Glu106=) rs750030065 0.00001
NM_002506.3(NGF):c.372C>G (p.Ser124=) rs1409051848 0.00001
NM_002506.3(NGF):c.381C>T (p.Ile127=) rs372985633 0.00001
NM_002506.3(NGF):c.417C>T (p.Val139=) rs369555032 0.00001
NM_002506.3(NGF):c.477G>A (p.Val159=) rs886045115 0.00001
NM_002506.3(NGF):c.483A>G (p.Gly161=) rs748481624 0.00001
NM_002506.3(NGF):c.486G>A (p.Glu162=) rs1394210230 0.00001
NM_002506.3(NGF):c.600T>C (p.Tyr200=) rs774626005 0.00001
NM_002506.3(NGF):c.645C>T (p.Gly215=) rs371529651 0.00001
NM_002506.3(NGF):c.93C>G (p.Thr31=) rs1014644520 0.00001
NM_002506.3(NGF):c.150A>G (p.Arg50=)
NM_002506.3(NGF):c.165G>C (p.Pro55=) rs149876217
NM_002506.3(NGF):c.18C>T (p.Tyr6=) rs370169329
NM_002506.3(NGF):c.195G>A (p.Gly65=)
NM_002506.3(NGF):c.201C>A (p.Thr67=) rs760350868
NM_002506.3(NGF):c.216G>A (p.Val72=) rs1414433934
NM_002506.3(NGF):c.240G>C (p.Arg80=)
NM_002506.3(NGF):c.262C>T (p.Leu88=)
NM_002506.3(NGF):c.264G>A (p.Leu88=)
NM_002506.3(NGF):c.270C>T (p.Ser90=)
NM_002506.3(NGF):c.279T>C (p.Pro93=)
NM_002506.3(NGF):c.351C>T (p.His117=)
NM_002506.3(NGF):c.354G>A (p.Arg118=) rs2101018914
NM_002506.3(NGF):c.372C>T (p.Ser124=) rs1409051848
NM_002506.3(NGF):c.43G>A (p.Gly15Ser) rs181255687
NM_002506.3(NGF):c.441C>T (p.Thr147=) rs765111580
NM_002506.3(NGF):c.456C>T (p.Ile152=)
NM_002506.3(NGF):c.537C>T (p.Cys179=) rs1571069427
NM_002506.3(NGF):c.573C>T (p.Gly191=) rs2101018467
NM_002506.3(NGF):c.609G>A (p.Thr203=) rs143157422
NM_002506.3(NGF):c.630G>A (p.Ala210=)
NM_002506.3(NGF):c.63C>T (p.His21=)
NM_002506.3(NGF):c.657C>T (p.Ala219=) rs2101018295
NM_002506.3(NGF):c.661C>A (p.Arg221=)
NM_002506.3(NGF):c.681G>A (p.Thr227=)
NM_002506.3(NGF):c.684C>T (p.Ala228=)
NM_002506.3(NGF):c.69G>A (p.Glu23=) rs762536454
NM_002506.3(NGF):c.6C>T (p.Ser2=)
NM_002506.3(NGF):c.714G>A (p.Val238=)
NM_002506.3(NGF):c.90C>T (p.His30=)

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