ClinVar Miner

List of variants in gene combination SCN1A, SCN9A reported as likely pathogenic by Invitae

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Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_001365536.1(SCN9A):c.2719C>T (p.Arg907Trp) rs202152511 0.00004
NM_001365536.1(SCN9A):c.2517+1G>C rs560913943 0.00001
NM_001365536.1(SCN9A):c.3928G>A (p.Val1310Ile) rs121908913 0.00001
NM_001365536.1(SCN9A):c.4503+1G>T rs746241591 0.00001
NM_001365536.1(SCN9A):c.1314+1G>A
NM_001365536.1(SCN9A):c.1314+1G>T rs1295192882
NM_001365536.1(SCN9A):c.1602+1G>A rs2106486889
NM_001365536.1(SCN9A):c.1602+1_1602+2insTGTCGAAGGGCATAGGCGAGCACATGAAAAGAGGTTGTCTACCCCCAATCAGGAC
NM_001365536.1(SCN9A):c.2344-2A>G rs1697328487
NM_001365536.1(SCN9A):c.2518-1G>T rs2106469561
NM_001365536.1(SCN9A):c.2875-1G>A
NM_001365536.1(SCN9A):c.3351+2T>G
NM_001365536.1(SCN9A):c.3427G>C (p.Ala1143Pro)
NM_001365536.1(SCN9A):c.3628-1G>A
NM_001365536.1(SCN9A):c.3796_3801+23del rs1471163637
NM_001365536.1(SCN9A):c.3924+1G>C rs2106395478
NM_001365536.1(SCN9A):c.3925-2A>G rs532631248
NM_001365536.1(SCN9A):c.4398+2T>C rs2106383164
NM_001365536.1(SCN9A):c.4399-1C>T rs1283839545
NM_001365536.1(SCN9A):c.4415T>A (p.Ile1472Asn) rs121908914
NM_001365536.1(SCN9A):c.4503+1G>A rs746241591
NM_001365536.1(SCN9A):c.5876A>C (p.Asp1959Ala) rs1060502047
NM_001365536.1(SCN9A):c.965+1G>T rs1698219355

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