ClinVar Miner

List of variants in gene SCN11A reported as likely benign by CeGaT Center for Human Genetics Tuebingen

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Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_001349253.2(SCN11A):c.4230G>A (p.Thr1410=) rs78953918 0.00480
NM_001349253.2(SCN11A):c.-155C>T rs76870831 0.00457
NM_001349253.2(SCN11A):c.3473T>C (p.Leu1158Pro) rs141686175 0.00047
NM_001349253.2(SCN11A):c.268-3C>T rs200598776 0.00037
NM_001349253.2(SCN11A):c.1097A>G (p.Gln366Arg) rs112707835 0.00013
NM_001349253.2(SCN11A):c.5359A>G (p.Lys1787Glu) rs199522402 0.00012
NM_001349253.2(SCN11A):c.408C>T (p.Ile136=) rs148425367 0.00010
NM_001349253.2(SCN11A):c.2945G>A (p.Arg982Gln) rs562379429 0.00006
NM_001349253.2(SCN11A):c.5124A>G (p.Glu1708=) rs534882975 0.00004
NM_001349253.2(SCN11A):c.2340G>A (p.Ala780=) rs779486096 0.00001
NM_001349253.2(SCN11A):c.2776G>A (p.Val926Ile) rs759255427 0.00001
NM_001349253.2(SCN11A):c.4014A>G (p.Lys1338=) rs554136131 0.00001
NM_001349253.2(SCN11A):c.5071G>A (p.Ala1691Thr) rs754911340 0.00001
NM_001349253.2(SCN11A):c.3144C>T (p.Thr1048=) rs1575242555
NM_001349253.2(SCN11A):c.4464T>C (p.Phe1488=)

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