ClinVar Miner

List of variants in gene combination SCN1A, SCN9A reported as uncertain significance by CeGaT Center for Human Genetics Tuebingen

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Gene type:
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Total variants: 32
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HGVS dbSNP gnomAD frequency
NM_001365536.1(SCN9A):c.3361C>T (p.Arg1121Trp) rs190664764 0.00304
NM_001365536.1(SCN9A):c.1099T>C (p.Tyr367His) rs200457046 0.00011
NM_001365536.1(SCN9A):c.1554C>T (p.Val518=) rs201054032 0.00009
NM_001365536.1(SCN9A):c.2085A>G (p.Ile695Met) rs199588089 0.00009
NM_001365536.1(SCN9A):c.4305T>G (p.Ile1435Met) rs200479892 0.00009
NM_001365536.1(SCN9A):c.1793G>A (p.Arg598His) rs201318927 0.00004
NM_001365536.1(SCN9A):c.4156A>C (p.Lys1386Gln) rs199902747 0.00003
NM_001365536.1(SCN9A):c.4289G>A (p.Ser1430Asn) rs201479177 0.00003
NM_001365536.1(SCN9A):c.2166G>C (p.Leu722Phe) rs772492538 0.00002
NM_001365536.1(SCN9A):c.1792C>T (p.Arg598Cys) rs200065703 0.00001
NM_001365536.1(SCN9A):c.2191A>G (p.Ile731Val) rs1574857096 0.00001
NM_001365536.1(SCN9A):c.2330C>T (p.Ala777Val) rs749482425 0.00001
NM_001365536.1(SCN9A):c.2779G>A (p.Glu927Lys) rs202097398 0.00001
NM_001365536.1(SCN9A):c.1286_1287delinsAA (p.Arg429Gln) rs1064797268
NM_001365536.1(SCN9A):c.1336G>A (p.Glu446Lys) rs1175228324
NM_001365536.1(SCN9A):c.1502C>T (p.Ser501Leu)
NM_001365536.1(SCN9A):c.1757G>A (p.Gly586Asp) rs1574864414
NM_001365536.1(SCN9A):c.2146A>C (p.Arg716=) rs1177414657
NM_001365536.1(SCN9A):c.2387T>C (p.Ile796Thr) rs2106471480
NM_001365536.1(SCN9A):c.2538A>G (p.Ala846=) rs922811520
NM_001365536.1(SCN9A):c.3223G>A (p.Asp1075Asn)
NM_001365536.1(SCN9A):c.3289G>A (p.Asp1097Asn) rs768654039
NM_001365536.1(SCN9A):c.3627+8A>T rs1553482000
NM_001365536.1(SCN9A):c.4073G>A (p.Arg1358Gln) rs200163716
NM_001365536.1(SCN9A):c.4211C>A (p.Thr1404Asn) rs201880500
NM_001365536.1(SCN9A):c.4260+3A>G
NM_001365536.1(SCN9A):c.4343C>T (p.Thr1448Ile)
NM_001365536.1(SCN9A):c.4370T>C (p.Ile1457Thr) rs1694849428
NM_001365536.1(SCN9A):c.4533A>G (p.Leu1511=) rs545627123
NM_001365536.1(SCN9A):c.4597A>T (p.Met1533Leu) rs2106346393
NM_001365536.1(SCN9A):c.5254G>C (p.Val1752Leu) rs1064797267
NM_001365536.1(SCN9A):c.5371C>A (p.Pro1791Thr) rs1693360658

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