ClinVar Miner

List of variants in gene LOC126806652, SCN11A studied for hereditary sensory and autonomic neuropathy

Included ClinVar conditions (44):
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Total variants: 42
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HGVS dbSNP gnomAD frequency
NM_001349253.2(SCN11A):c.3759+10G>A rs35479964 0.10660
NM_001349253.2(SCN11A):c.3506A>G (p.Asn1169Ser) rs143552154 0.00020
NM_001349253.2(SCN11A):c.3745G>A (p.Ala1249Thr) rs1222682816 0.00016
NM_001349253.2(SCN11A):c.3689A>G (p.Asn1230Ser) rs765543089 0.00012
NM_001349253.2(SCN11A):c.3496-5A>G rs370779865 0.00009
NM_001349253.2(SCN11A):c.3509C>T (p.Ala1170Val) rs202104486 0.00004
NM_001349253.2(SCN11A):c.3571G>A (p.Val1191Ile) rs199670122 0.00003
NM_001349253.2(SCN11A):c.3693C>A (p.Phe1231Leu) rs571063521 0.00002
NM_001349253.2(SCN11A):c.3724A>G (p.Asn1242Asp) rs769151002 0.00002
NM_001349253.2(SCN11A):c.3726T>C (p.Asn1242=) rs747577572 0.00002
NM_001349253.2(SCN11A):c.3744C>T (p.Leu1248=) rs182449073 0.00002
NM_001349253.2(SCN11A):c.3564C>T (p.Phe1188=) rs1407509787 0.00001
NM_001349253.2(SCN11A):c.3652A>G (p.Thr1218Ala) rs755040820 0.00001
NM_001349253.2(SCN11A):c.3746C>T (p.Ala1249Val) rs1360698576 0.00001
NM_001349253.2(SCN11A):c.3496-3A>G
NM_001349253.2(SCN11A):c.3502G>A (p.Val1168Ile)
NM_001349253.2(SCN11A):c.3515T>C (p.Ile1172Thr)
NM_001349253.2(SCN11A):c.3526C>G (p.Pro1176Ala)
NM_001349253.2(SCN11A):c.3536T>A (p.Leu1179Gln) rs2065128499
NM_001349253.2(SCN11A):c.3567G>T (p.Trp1189Cys)
NM_001349253.2(SCN11A):c.3578G>T (p.Cys1193Phe) rs2126096045
NM_001349253.2(SCN11A):c.3594C>T (p.Tyr1198=)
NM_001349253.2(SCN11A):c.3594CTT[1] (p.Phe1200del) rs752609562
NM_001349253.2(SCN11A):c.3611T>A (p.Phe1204Tyr)
NM_001349253.2(SCN11A):c.3620G>T (p.Cys1207Phe) rs904970580
NM_001349253.2(SCN11A):c.3621C>T (p.Cys1207=) rs1553633777
NM_001349253.2(SCN11A):c.3631A>G (p.Thr1211Ala) rs1186618940
NM_001349253.2(SCN11A):c.3634G>T (p.Asp1212Tyr) rs966280936
NM_001349253.2(SCN11A):c.3636C>T (p.Asp1212=)
NM_001349253.2(SCN11A):c.3655A>G (p.Ile1219Val) rs2126095930
NM_001349253.2(SCN11A):c.3688A>G (p.Asn1230Asp)
NM_001349253.2(SCN11A):c.3694T>C (p.Ser1232Pro) rs2126095851
NM_001349253.2(SCN11A):c.3704A>T (p.Asn1235Ile)
NM_001349253.2(SCN11A):c.3709A>G (p.Lys1237Glu)
NM_001349253.2(SCN11A):c.3716A>G (p.Asn1239Ser)
NM_001349253.2(SCN11A):c.3730G>A (p.Gly1244Arg)
NM_001349253.2(SCN11A):c.3730G>C (p.Gly1244Arg)
NM_001349253.2(SCN11A):c.3736G>T (p.Ala1246Ser) rs778454820
NM_001349253.2(SCN11A):c.3740A>G (p.Tyr1247Cys)
NM_001349253.2(SCN11A):c.3745G>C (p.Ala1249Pro)
NM_001349253.2(SCN11A):c.3748C>T (p.Leu1250=)
NM_001349253.2(SCN11A):c.3759+12C>G

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