ClinVar Miner

List of variants reported as not provided for hereditary peripheral neuropathy by GenomeConnect - Invitae Patient Insights Network

Included ClinVar conditions (479):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 122
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HGVS dbSNP gnomAD frequency
NM_000153.4(GALC):c.1685T>C (p.Ile562Thr) rs398607 0.49946
NM_000487.6(ARSA):c.*96A>G rs6151429 0.05120
NM_001370658.1(BTD):c.1270G>C (p.Asp424His) rs13078881 0.03225
NM_000371.4(TTR):c.424G>A (p.Val142Ile) rs76992529 0.00501
NM_014845.6(FIG4):c.122T>C (p.Ile41Thr) rs121908287 0.00117
NM_181882.3(PRX):c.823C>A (p.Leu275Ile) rs200033507 0.00108
NM_025137.4(SPG11):c.5121G>T (p.Glu1707Asp) rs145643238 0.00103
NM_024577.4(SH3TC2):c.2860C>T (p.Arg954Ter) rs80338933 0.00067
NM_001723.7(DST):c.3436A>G (p.Met1146Val) rs148413592 0.00066
NM_030962.4(SBF2):c.2081C>T (p.Ala694Val) rs141368249 0.00051
NM_001349253.2(SCN11A):c.268-3C>T rs200598776 0.00037
NM_001376.5(DYNC1H1):c.5971G>A (p.Asp1991Asn) rs151001016 0.00030
NM_014874.4(MFN2):c.2119C>T (p.Arg707Trp) rs119103267 0.00029
NM_000081.4(LYST):c.5033T>C (p.Val1678Ala) rs151337641 0.00019
NM_022489.4(INF2):c.3103G>A (p.Gly1035Ser) rs368995122 0.00019
NM_001365536.1(SCN9A):c.1846G>A (p.Gly616Arg) rs201338643 0.00014
NM_001370298.3(FGD4):c.2506A>G (p.Met836Val) rs140220443 0.00013
NM_006736.6(DNAJB2):c.230-2A>G rs369661561 0.00012
NM_001005373.4(LRSAM1):c.1046A>G (p.Gln349Arg) rs200595164 0.00011
NM_025137.4(SPG11):c.328A>G (p.Asn110Asp) rs139498464 0.00011
NM_025137.4(SPG11):c.4365G>C (p.Trp1455Cys) rs138103656 0.00011
NM_025137.4(SPG11):c.5381T>C (p.Leu1794Pro) rs201689565 0.00011
NM_002693.3(POLG):c.3139C>T (p.Arg1047Trp) rs181860632 0.00010
NM_021629.4(GNB4):c.44G>A (p.Arg15Gln) rs138187021 0.00008
NM_025137.4(SPG11):c.5599G>A (p.Glu1867Lys) rs372419484 0.00008
NM_001130823.3(DNMT1):c.3262G>A (p.Val1088Ile) rs776461147 0.00006
NM_001349253.2(SCN11A):c.2458A>T (p.Asn820Tyr) rs148401428 0.00006
NM_015915.5(ATL1):c.1556G>A (p.Ser519Asn) rs751861796 0.00006
NM_030962.4(SBF2):c.3989T>C (p.Val1330Ala) rs147350002 0.00006
NM_205836.3(FBXO38):c.11G>A (p.Arg4Gln) rs148337492 0.00006
NM_000466.3(PEX1):c.3623G>A (p.Arg1208Gln) rs767337582 0.00005
NM_001365536.1(SCN9A):c.2299C>A (p.Pro767Thr) rs199715588 0.00005
NM_018972.4(GDAP1):c.1006G>T (p.Ala336Ser) rs140811185 0.00005
NM_181882.3(PRX):c.848T>G (p.Val283Gly) rs776556523 0.00005
NM_000371.4(TTR):c.148G>A (p.Val50Met) rs28933979 0.00004
NM_001365536.1(SCN9A):c.1921A>T (p.Asn641Tyr) rs121908918 0.00004
NM_001365536.1(SCN9A):c.2719C>T (p.Arg907Trp) rs202152511 0.00004
NM_001370298.3(FGD4):c.1586G>A (p.Ser529Asn) rs781528826 0.00004
NM_001374736.1(DST):c.17593C>T (p.Arg5865Trp) rs766911461 0.00004
NM_001376.5(DYNC1H1):c.2869-3C>T rs750614475 0.00004
NM_002693.3(POLG):c.3425G>A (p.Arg1142Gln) rs536732038 0.00004
NM_020631.6(PLEKHG5):c.571C>T (p.Arg191Trp) rs183712624 0.00004
NM_022041.4(GAN):c.75G>A (p.Glu25=) rs754548795 0.00004
NM_000052.7(ATP7A):c.4424A>G (p.Asn1475Ser) rs782774219 0.00003
NM_000143.4(FH):c.521C>G (p.Pro174Arg) rs199822819 0.00003
NM_000143.4(FH):c.698G>A (p.Arg233His) rs121913123 0.00003
NM_000263.4(NAGLU):c.848C>T (p.Pro283Leu) rs750625891 0.00003
NM_001349253.2(SCN11A):c.5063C>T (p.Ala1688Val) rs79184444 0.00003
NM_002529.4(NTRK1):c.2242C>T (p.Arg748Trp) rs778520978 0.00003
NM_015046.7(SETX):c.2411T>C (p.Leu804Ser) rs201096140 0.00003
NM_015046.7(SETX):c.2755G>C (p.Val919Leu) rs561190371 0.00003
NM_021625.5(TRPV4):c.37G>T (p.Gly13Trp) rs763302555 0.00003
NM_001003800.2(BICD2):c.641G>A (p.Arg214His) rs373760993 0.00002
NM_001365536.1(SCN9A):c.294C>A (p.Phe98Leu) rs199824489 0.00002
NM_002109.6(HARS1):c.1123C>T (p.Arg375Cys) rs774682373 0.00002
NM_003680.4(YARS1):c.1042+3A>C rs772446297 0.00002
NM_004082.5(DCTN1):c.2477C>T (p.Thr826Met) rs766585070 0.00002
NM_006514.4(SCN10A):c.5283T>G (p.Phe1761Leu) rs751237565 0.00002
NM_025137.4(SPG11):c.5696G>A (p.Arg1899Gln) rs768303307 0.00002
NM_030962.4(SBF2):c.5036G>A (p.Arg1679His) rs769919130 0.00002
NM_000530.8(MPZ):c.662C>T (p.Ala221Val) rs1040557288 0.00001
NM_001303256.3(MORC2):c.1298C>G (p.Ala433Gly) rs1370510062 0.00001
NM_001365536.1(SCN9A):c.4128T>C (p.Val1376=) rs1413202256 0.00001
NM_001374736.1(DST):c.14024G>A (p.Gly4675Asp) rs748551099 0.00001
NM_001376.5(DYNC1H1):c.13414G>A (p.Gly4472Ser) rs199692678 0.00001
NM_001605.3(AARS1):c.726G>A (p.Met242Ile) rs780360628 0.00001
NM_001723.7(DST):c.4460T>A (p.Val1487Glu) rs1236815487 0.00001
NM_002180.3(IGHMBP2):c.830A>G (p.Gln277Arg) rs112495985 0.00001
NM_004863.4(SPTLC2):c.547C>T (p.Arg183Trp) rs775437084 0.00001
NM_006096.4(NDRG1):c.1052G>A (p.Arg351Gln) rs1282857383 0.00001
NM_006514.4(SCN10A):c.3521A>G (p.Tyr1174Cys) rs1167279918 0.00001
NM_006859.4(LIAS):c.850G>A (p.Glu284Lys) rs796052699 0.00001
NM_014845.6(FIG4):c.2296C>T (p.Arg766Trp) rs552937585 0.00001
NM_014845.6(FIG4):c.80T>C (p.Val27Ala) rs769687105 0.00001
NM_018972.4(GDAP1):c.358C>T (p.Arg120Trp) rs104894078 0.00001
NM_020631.6(PLEKHG5):c.1054A>G (p.Ile352Val) rs200802048 0.00001
NM_020631.6(PLEKHG5):c.2127T>A (p.Asp709Glu) rs910994587 0.00001
NM_021625.5(TRPV4):c.686C>T (p.Ser229Leu) rs373980330 0.00001
NM_025137.4(SPG11):c.2612dup (p.Ser871fs) rs750101275 0.00001
NM_030962.4(SBF2):c.3887C>T (p.Ser1296Leu) rs767811228 0.00001
NM_030973.4(MED25):c.751G>A (p.Ala251Thr) rs775622130 0.00001
NM_205836.3(FBXO38):c.3277G>A (p.Val1093Ile) rs779324806 0.00001
GRCh37/hg19 17p12(chr17:15133096-15164093)x1
GRCh37/hg19 17p12(chr17:15229779-15265326)x3
GRCh37/hg19 5q13.2(chr5:70220768-70247953)x0
NM_000081.4(LYST):c.1766A>G (p.Lys589Arg)
NM_000081.4(LYST):c.2317G>A (p.Val773Met)
NM_000081.4(LYST):c.6833A>G (p.Tyr2278Cys)
NM_000166.6(GJB1):c.658C>T (p.Arg220Ter) rs104894814
NM_000304.4(PMP22):c.418T>A (p.Trp140Arg) rs1555564040
NM_000318.3(PEX2):c.632T>C (p.Ile211Thr)
NM_000371.4(TTR):c.244G>A (p.Glu82Lys) rs1555631402
NM_000466.3(PEX1):c.3416G>A (p.Gly1139Glu)
NM_000530.8(MPZ):c.434_437del (p.Tyr145fs) rs1553259643
NM_001005361.3(DNM2):c.2356G>T (p.Gly786Cys) rs1555717200
NM_001005373.4(LRSAM1):c.1864A>G (p.Ile622Val) rs1836186573
NM_001005373.4(LRSAM1):c.2089C>T (p.Gln697Ter) rs961918637
NM_001349253.2(SCN11A):c.3526C>G (p.Pro1176Ala)
NM_001365536.1(SCN9A):c.3332A>G (p.Asp1111Gly) rs753287730
NM_001365536.1(SCN9A):c.4778T>C (p.Met1593Thr) rs754401649
NM_001374736.1(DST):c.15836AAG[1] (p.Glu5280del) rs1233181836
NM_001376.5(DYNC1H1):c.13777G>A (p.Val4593Ile) rs750566844
NM_001540.5(HSPB1):c.172del (p.Leu58fs) rs768456339
NM_002180.3(IGHMBP2):c.181G>A (p.Gly61Arg) rs1057518943
NM_002180.3(IGHMBP2):c.791G>A (p.Arg264His) rs777575504
NM_004082.5(DCTN1):c.1504C>T (p.Arg502Cys) rs145958900
NM_004082.5(DCTN1):c.1807C>A (p.His603Asn) rs1558939544
NM_006096.4(NDRG1):c.176T>C (p.Ile59Thr) rs1856819839
NM_006859.4(LIAS):c.1106_1110del (p.Thr369fs) rs1560674852
NM_014874.4(MFN2):c.1511T>C (p.Leu504Pro) rs1553145023
NM_015271.5(TRIM2):c.1663C>T (p.Arg555Cys) rs2149528038
NM_015915.5(ATL1):c.715C>T (p.Arg239Cys) rs119476046
NM_018979.4(WNK1):c.6624C>G (p.Ser2208Arg) rs72650768
NM_021625.5(TRPV4):c.2246C>G (p.Pro749Arg) rs1555205050
NM_024577.4(SH3TC2):c.2072_2090del (p.Ala691fs) rs878855092
NM_025137.4(SPG11):c.4402C>G (p.Pro1468Ala) rs2083030697
NM_025137.4(SPG11):c.4432C>T (p.Gln1478Ter) rs2140971559
NM_025137.4(SPG11):c.5989_5992del (p.Leu1997fs) rs312262776
NM_025137.4(SPG11):c.5990T>A (p.Leu1997Gln) rs879367729
NM_025137.4(SPG11):c.7324G>C (p.Ala2442Pro) rs765644977
NM_170707.4(LMNA):c.1380+1G>A rs267607552
NM_170707.4(LMNA):c.694G>C (p.Gly232Arg) rs267607609

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