ClinVar Miner

List of variants studied for hereditary sensory and autonomic neuropathy by OMIM

Included ClinVar conditions (44):
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ClinVar version:
Total variants: 92
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HGVS dbSNP gnomAD frequency
NM_004208.4(AIFM1):c.1030C>T (p.Leu344Phe) rs184474885 0.00004
NM_002529.4(NTRK1):c.851-33T>A rs80356674 0.00003
NM_213655.5(WNK1):c.3226C>T (p.Arg1076Ter) rs111033591 0.00002
NM_213655.5(WNK1):c.3301C>T (p.Gln1101Ter) rs111033590 0.00002
NM_001031710.3(KLHL7):c.1051C>T (p.Arg351Ter) rs746612410 0.00001
NM_001031710.3(KLHL7):c.1258C>T (p.Arg420Cys) rs780705654 0.00001
NM_001031710.3(KLHL7):c.976C>T (p.Arg326Ter) rs77078070 0.00001
NM_001244008.2(KIF1A):c.2840del (p.Leu947fs) rs587778791 0.00001
NM_001365536.1(SCN9A):c.984C>A (p.Tyr328Ter) rs121908917 0.00001
NM_001374736.1(DST):c.616C>T (p.Arg206Trp) rs374616412 0.00001
NM_002506.3(NGF):c.661C>T (p.Arg221Trp) rs11466112 0.00001
NM_002529.4(NTRK1):c.1550G>A (p.Gly517Glu) rs606231467 0.00001
NM_002529.4(NTRK1):c.207_208del (p.Glu70fs) rs398122810 0.00001
NM_004750.5(CRLF1):c.676dup (p.Thr226fs) rs761746361 0.00001
NM_004863.4(SPTLC2):c.1075G>A (p.Val359Met) rs267607090 0.00001
NM_006415.4(SPTLC1):c.431T>A (p.Val144Asp) rs119482083 0.00001
NM_001012331.1(NTRK1):c.[25C>T;1792C>T;1820G>T]
NM_001031710.3(KLHL7):c.1022del (p.Leu341fs) rs879255557
NM_001031710.3(KLHL7):c.1115G>A (p.Arg372Gln) rs879255558
NM_001031710.3(KLHL7):c.1261T>A (p.Cys421Ser) rs879255556
NM_001031710.3(KLHL7):c.178GTT[1] (p.Val61del) rs1554286093
NM_001031710.3(KLHL7):c.618+1G>A rs1554289078
NM_001034850.3(RETREG1):c.18_19del (p.Pro7fs) rs137852736
NM_001034850.3(RETREG1):c.433C>T (p.Gln145Ter) rs137852737
NM_001034850.3(RETREG1):c.826del (p.Ser276fs) rs886037748
NM_001034850.3(RETREG1):c.873+2T>C rs137852738
NM_001034850.3(RETREG1):c.926C>G (p.Ser309Ter) rs137852739
NM_001130823.3(DNMT1):c.1518_1520delinsATA (p.Asp506_Pro507delinsGluTyr) rs199473691
NM_001130823.3(DNMT1):c.1531T>C (p.Tyr511His) rs199473692
NM_001130823.3(DNMT1):c.1532A>G (p.Tyr511Cys) rs199473690
NM_001244008.2(KIF1A):c.5271dup (p.Ser1758fs) rs587778798
NM_001349253.2(SCN11A):c.2432T>C (p.Leu811Pro) rs483352920
NM_001365536.1(SCN9A):c.1376C>G (p.Ser459Ter) rs121908908
NM_001365536.1(SCN9A):c.2331del (p.Ala777_Ile778insTer) rs1574856736
NM_001365536.1(SCN9A):c.2724G>A (p.Trp908Ter) rs121908909
NM_001365536.1(SCN9A):c.829C>T (p.Arg277Ter) rs121908916
NM_001374736.1(DST):c.19345A>T (p.Lys6449Ter) rs1562435373
NM_001374736.1(DST):c.21756del (p.Ala7253fs) rs398122819
NM_001374736.1(DST):c.608C>A (p.Ala203Glu) rs201871537
NM_001374736.1(DST):c.687+1G>A rs1426972011
NM_002506.3(NGF):c.680_682delinsA (p.Thr227fs) rs2101018240
NM_002529.4(NTRK1):c.1076A>G (p.Tyr359Cys) rs121964869
NM_002529.4(NTRK1):c.1660del (p.Arg554fs) rs80356675
NM_002529.4(NTRK1):c.1729G>C (p.Gly577Arg) rs121964866
NM_002529.4(NTRK1):c.1759A>G (p.Met587Val) rs121964870
NM_002529.4(NTRK1):c.1860_1861insT (p.Pro621fs) rs80356676
NM_002529.4(NTRK1):c.2046+3A>C rs914061514
NM_002529.4(NTRK1):c.2084C>T (p.Pro695Leu) rs121964868
NM_002529.4(NTRK1):c.2339G>C (p.Arg780Pro) rs35669708
NM_002529.4(NTRK1):c.717+4A>T rs606231466
NM_002529.4(NTRK1):c.[253C>A;429-1G>C]
NM_004208.4(AIFM1):c.1264C>T (p.Arg422Trp) rs724160020
NM_004208.4(AIFM1):c.1265G>A (p.Arg422Gln) rs724160021
NM_004208.4(AIFM1):c.1352G>A (p.Arg451Gln) rs863225431
NM_004208.4(AIFM1):c.778A>G (p.Thr260Ala) rs863225432
NM_004750.4(CRLF1):c.[242G>A;1121T>G]
NM_004750.5(CRLF1):c.1102A>T (p.Lys368Ter) rs137853144
NM_004750.5(CRLF1):c.226T>G (p.Trp76Gly) rs137853143
NM_004750.5(CRLF1):c.527+5G>A rs748847434
NM_004750.5(CRLF1):c.708_709delinsT (p.Pro238fs) rs2145329741
NM_004750.5(CRLF1):c.713dup (p.Pro239fs) rs768727082
NM_004750.5(CRLF1):c.829C>T (p.Arg277Ter) rs137853145
NM_004750.5(CRLF1):c.845_846del (p.Val282fs) rs137853928
NM_004863.4(SPTLC2):c.1145G>T (p.Gly382Val) rs267607089
NM_004863.4(SPTLC2):c.1151C>T (p.Ser384Phe) rs1594986869
NM_004863.4(SPTLC2):c.529A>G (p.Asn177Asp) rs1131691917
NM_004863.4(SPTLC2):c.544G>C (p.Ala182Pro) rs864621998
NM_006415.4(SPTLC1):c.1055C>T (p.Ala352Val) rs267607088
NM_006415.4(SPTLC1):c.1160G>C (p.Gly387Ala) rs119482084
NM_006415.4(SPTLC1):c.398G>A (p.Cys133Tyr) rs119482081
NM_006415.4(SPTLC1):c.399T>G (p.Cys133Trp) rs119482082
NM_013246.3(CLCF1):c.321C>A (p.Tyr107Ter) rs104894198
NM_013246.3(CLCF1):c.46T>C (p.Cys16Arg) rs137853934
NM_013246.3(CLCF1):c.590G>T (p.Arg197Leu) rs104894203
NM_013246.3(CLCF1):c.676T>C (p.Ter226Arg) rs137853935
NM_015459.5(ATL3):c.1013C>G (p.Pro338Arg) rs1939486740
NM_015459.5(ATL3):c.575A>G (p.Tyr192Cys) rs587777108
NM_015915.5(ATL1):c.1065C>A (p.Asn355Lys) rs1555365597
NM_015915.5(ATL1):c.196G>C (p.Glu66Gln) rs200314808
NM_015915.5(ATL1):c.976del (p.Val326fs) rs1595619553
NM_018979.4(WNK1):c.1591_1592del (p.Asp531fs) rs387906332
NM_021619.3(PRDM12):c.1041CGC[(15_?)]
NM_021619.3(PRDM12):c.305T>A (p.Ile102Asn) rs879255636
NM_021619.3(PRDM12):c.516G>C (p.Glu172Asp) rs755205487
NM_021619.3(PRDM12):c.866A>T (p.His289Leu) rs879255638
NM_021619.3(PRDM12):c.91G>T (p.Asp31Tyr) rs879255637
NM_213655.5(WNK1):c.2575C>T (p.Gln859Ter) rs111033592
NM_213655.5(WNK1):c.2952del (p.Glu984fs) rs137852734
NM_213655.5(WNK1):c.2999del (p.Arg1000fs) rs387906331
NM_213655.5(WNK1):c.3276dup (p.Ser1093fs) rs137852735
NM_213655.5(WNK1):c.3305del (p.Pro1102fs) rs1951897077
WNK1, 1-BP INS, 1134T

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