ClinVar Miner

List of variants in gene SCN11A reported as uncertain significance by Ambry Genetics

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Gene type:
ClinVar version:
Total variants: 187
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HGVS dbSNP gnomAD frequency
NM_001349253.2(SCN11A):c.2576G>A (p.Arg859Lys) rs539550341 0.00022
NM_001349253.2(SCN11A):c.2381T>C (p.Ile794Thr) rs147636808 0.00007
NM_001349253.2(SCN11A):c.1927A>G (p.Ile643Val) rs200800847 0.00006
NM_001349253.2(SCN11A):c.7G>C (p.Asp3His) rs373639733 0.00006
NM_001349253.2(SCN11A):c.2661G>A (p.Met887Ile) rs570749658 0.00005
NM_001349253.2(SCN11A):c.5084G>A (p.Gly1695Asp) rs199777850 0.00005
NM_001349253.2(SCN11A):c.1054A>G (p.Met352Val) rs757066072 0.00004
NM_001349253.2(SCN11A):c.1624C>A (p.Pro542Thr) rs144473860 0.00004
NM_001349253.2(SCN11A):c.2404-5C>A rs751257954 0.00004
NM_001349253.2(SCN11A):c.2530T>C (p.Cys844Arg) rs201598026 0.00004
NM_001349253.2(SCN11A):c.2993A>G (p.Asp998Gly) rs373403886 0.00004
NM_001349253.2(SCN11A):c.3136C>T (p.Arg1046Trp) rs776182932 0.00004
NM_001349253.2(SCN11A):c.331A>G (p.Ile111Val) rs1303641495 0.00004
NM_001349253.2(SCN11A):c.3851G>A (p.Gly1284Asp) rs755416318 0.00004
NM_001349253.2(SCN11A):c.3911T>C (p.Ile1304Thr) rs376861071 0.00004
NM_001349253.2(SCN11A):c.489G>A (p.Glu163=) rs774022892 0.00004
NM_001349253.2(SCN11A):c.970A>G (p.Ile324Val) rs1006611330 0.00004
NM_001349253.2(SCN11A):c.1061G>A (p.Arg354Gln) rs1380372157 0.00003
NM_001349253.2(SCN11A):c.1480C>T (p.Leu494Phe) rs770239361 0.00003
NM_001349253.2(SCN11A):c.2546C>G (p.Thr849Ser) rs772310170 0.00003
NM_001349253.2(SCN11A):c.3916G>A (p.Val1306Ile) rs763336682 0.00003
NM_001349253.2(SCN11A):c.4867T>C (p.Phe1623Leu) rs748282698 0.00003
NM_001349253.2(SCN11A):c.5035C>T (p.Arg1679Cys) rs143537709 0.00003
NM_001349253.2(SCN11A):c.887C>T (p.Ala296Val) rs146560458 0.00003
NM_001349253.2(SCN11A):c.1765A>G (p.Ile589Val) rs1050521607 0.00002
NM_001349253.2(SCN11A):c.1970T>C (p.Met657Thr) rs374430641 0.00002
NM_001349253.2(SCN11A):c.2093T>C (p.Val698Ala) rs747911047 0.00002
NM_001349253.2(SCN11A):c.240C>G (p.Asp80Glu) rs749020471 0.00002
NM_001349253.2(SCN11A):c.2881G>T (p.Val961Phe) rs367689714 0.00002
NM_001349253.2(SCN11A):c.2932A>G (p.Ile978Val) rs1402451637 0.00002
NM_001349253.2(SCN11A):c.3083C>T (p.Pro1028Leu) rs146367296 0.00002
NM_001349253.2(SCN11A):c.3466C>T (p.Arg1156Cys) rs571721216 0.00002
NM_001349253.2(SCN11A):c.5312A>G (p.Gln1771Arg) rs773726638 0.00002
NM_001349253.2(SCN11A):c.742C>T (p.Arg248Cys) rs764550088 0.00002
NM_001349253.2(SCN11A):c.1142T>C (p.Ile381Thr) rs606231280 0.00001
NM_001349253.2(SCN11A):c.1421C>G (p.Ser474Cys) rs576179462 0.00001
NM_001349253.2(SCN11A):c.1423G>T (p.Gly475Trp) rs373799320 0.00001
NM_001349253.2(SCN11A):c.1525C>T (p.His509Tyr) rs765328639 0.00001
NM_001349253.2(SCN11A):c.1685A>G (p.Gln562Arg) rs764962415 0.00001
NM_001349253.2(SCN11A):c.1934A>G (p.Asp645Gly) rs988402656 0.00001
NM_001349253.2(SCN11A):c.1942G>A (p.Val648Ile) rs377765909 0.00001
NM_001349253.2(SCN11A):c.2404-6T>C rs964158614 0.00001
NM_001349253.2(SCN11A):c.2413C>T (p.Leu805Phe) rs762472453 0.00001
NM_001349253.2(SCN11A):c.2745G>C (p.Trp915Cys) rs766711573 0.00001
NM_001349253.2(SCN11A):c.2776G>A (p.Val926Ile) rs759255427 0.00001
NM_001349253.2(SCN11A):c.2870C>T (p.Thr957Met) rs752776956 0.00001
NM_001349253.2(SCN11A):c.3043C>T (p.Pro1015Ser) rs1449575299 0.00001
NM_001349253.2(SCN11A):c.323C>G (p.Ala108Gly) rs571192669 0.00001
NM_001349253.2(SCN11A):c.3440G>A (p.Arg1147Gln) rs533830451 0.00001
NM_001349253.2(SCN11A):c.3485A>G (p.Glu1162Gly) rs770327954 0.00001
NM_001349253.2(SCN11A):c.4031C>A (p.Pro1344His) rs1295263360 0.00001
NM_001349253.2(SCN11A):c.4301G>T (p.Cys1434Phe) rs765274047 0.00001
NM_001349253.2(SCN11A):c.4327+5G>A rs924689834 0.00001
NM_001349253.2(SCN11A):c.4499T>G (p.Ile1500Ser) rs1460417708 0.00001
NM_001349253.2(SCN11A):c.4555T>C (p.Phe1519Leu) rs779114496 0.00001
NM_001349253.2(SCN11A):c.5083G>A (p.Gly1695Ser) rs1413143057 0.00001
NM_001349253.2(SCN11A):c.5116A>G (p.Met1706Val) rs770365703 0.00001
NM_001349253.2(SCN11A):c.703G>A (p.Val235Ile) rs770885330 0.00001
NM_001349253.2(SCN11A):c.1043C>A (p.Ser348Tyr)
NM_001349253.2(SCN11A):c.1081T>C (p.Trp361Arg)
NM_001349253.2(SCN11A):c.1184C>A (p.Thr395Asn)
NM_001349253.2(SCN11A):c.121A>G (p.Lys41Glu) rs1305437844
NM_001349253.2(SCN11A):c.1229T>C (p.Val410Ala)
NM_001349253.2(SCN11A):c.1278G>T (p.Gln426His)
NM_001349253.2(SCN11A):c.1428del (p.Asp477fs)
NM_001349253.2(SCN11A):c.143C>T (p.Pro48Leu)
NM_001349253.2(SCN11A):c.1466A>G (p.Gln489Arg) rs768568889
NM_001349253.2(SCN11A):c.1473+6T>C
NM_001349253.2(SCN11A):c.1483del (p.Leu494_Leu495insTer) rs763788482
NM_001349253.2(SCN11A):c.1498C>T (p.Arg500Ter) rs367770852
NM_001349253.2(SCN11A):c.1591A>G (p.Ile531Val) rs1553638792
NM_001349253.2(SCN11A):c.1612A>G (p.Lys538Glu) rs1553638694
NM_001349253.2(SCN11A):c.1960G>A (p.Ala654Thr)
NM_001349253.2(SCN11A):c.1977T>G (p.Cys659Trp)
NM_001349253.2(SCN11A):c.202G>A (p.Asp68Asn)
NM_001349253.2(SCN11A):c.2066C>G (p.Thr689Arg)
NM_001349253.2(SCN11A):c.208C>A (p.Pro70Thr)
NM_001349253.2(SCN11A):c.208C>T (p.Pro70Ser)
NM_001349253.2(SCN11A):c.2130T>G (p.Ile710Met)
NM_001349253.2(SCN11A):c.2158A>C (p.Met720Leu)
NM_001349253.2(SCN11A):c.2163G>T (p.Gln721His)
NM_001349253.2(SCN11A):c.2183A>G (p.Asn728Ser)
NM_001349253.2(SCN11A):c.2191A>G (p.Lys731Glu)
NM_001349253.2(SCN11A):c.2207G>C (p.Cys736Ser)
NM_001349253.2(SCN11A):c.2240G>A (p.Arg747Gln)
NM_001349253.2(SCN11A):c.2243A>G (p.His748Arg)
NM_001349253.2(SCN11A):c.2282T>A (p.Val761Glu) rs766457059
NM_001349253.2(SCN11A):c.2285T>G (p.Phe762Cys)
NM_001349253.2(SCN11A):c.2310C>G (p.Ile770Met)
NM_001349253.2(SCN11A):c.2329A>G (p.Met777Val) rs1434713581
NM_001349253.2(SCN11A):c.2339C>G (p.Ala780Gly)
NM_001349253.2(SCN11A):c.2343T>A (p.Asn781Lys)
NM_001349253.2(SCN11A):c.2369T>G (p.Val790Gly)
NM_001349253.2(SCN11A):c.2389A>G (p.Ile797Val)
NM_001349253.2(SCN11A):c.2395A>G (p.Lys799Glu) rs914965285
NM_001349253.2(SCN11A):c.2416_2418del (p.Phe806del) rs761708451
NM_001349253.2(SCN11A):c.2479G>A (p.Ala827Thr)
NM_001349253.2(SCN11A):c.2512C>T (p.Arg838Ter)
NM_001349253.2(SCN11A):c.2517C>G (p.Phe839Leu)
NM_001349253.2(SCN11A):c.2615G>A (p.Gly872Asp)
NM_001349253.2(SCN11A):c.2630G>T (p.Ser877Ile)
NM_001349253.2(SCN11A):c.267+5T>C
NM_001349253.2(SCN11A):c.2671T>C (p.Ser891Pro)
NM_001349253.2(SCN11A):c.2705C>T (p.Ser902Phe)
NM_001349253.2(SCN11A):c.2716A>G (p.Thr906Ala)
NM_001349253.2(SCN11A):c.274A>G (p.Met92Val)
NM_001349253.2(SCN11A):c.276G>T (p.Met92Ile) rs1378126936
NM_001349253.2(SCN11A):c.2783T>G (p.Phe928Cys)
NM_001349253.2(SCN11A):c.2795A>T (p.Asp932Val)
NM_001349253.2(SCN11A):c.2806C>T (p.Arg936Cys)
NM_001349253.2(SCN11A):c.2851C>A (p.Gln951Lys)
NM_001349253.2(SCN11A):c.2859C>A (p.Asn953Lys) rs946867669
NM_001349253.2(SCN11A):c.2908T>G (p.Ser970Ala)
NM_001349253.2(SCN11A):c.2915A>G (p.Asp972Gly)
NM_001349253.2(SCN11A):c.2965A>G (p.Ser989Gly)
NM_001349253.2(SCN11A):c.3053G>A (p.Cys1018Tyr)
NM_001349253.2(SCN11A):c.3062A>G (p.Lys1021Arg)
NM_001349253.2(SCN11A):c.3083C>A (p.Pro1028Gln)
NM_001349253.2(SCN11A):c.30T>G (p.Phe10Leu)
NM_001349253.2(SCN11A):c.3146G>A (p.Cys1049Tyr)
NM_001349253.2(SCN11A):c.3178A>G (p.Ser1060Gly)
NM_001349253.2(SCN11A):c.3220-6T>C
NM_001349253.2(SCN11A):c.3347A>G (p.Lys1116Arg)
NM_001349253.2(SCN11A):c.3449G>A (p.Arg1150Gln) rs951508265
NM_001349253.2(SCN11A):c.344T>A (p.Phe115Tyr)
NM_001349253.2(SCN11A):c.367A>G (p.Ile123Val) rs899219448
NM_001349253.2(SCN11A):c.3766T>C (p.Phe1256Leu)
NM_001349253.2(SCN11A):c.3768T>G (p.Phe1256Leu)
NM_001349253.2(SCN11A):c.3785T>C (p.Ile1262Thr)
NM_001349253.2(SCN11A):c.3857T>C (p.Ile1286Thr)
NM_001349253.2(SCN11A):c.387-2A>G
NM_001349253.2(SCN11A):c.3929A>G (p.Asn1310Ser)
NM_001349253.2(SCN11A):c.3998A>G (p.Tyr1333Cys)
NM_001349253.2(SCN11A):c.4057-6del rs756182817
NM_001349253.2(SCN11A):c.4109T>A (p.Ile1370Asn) rs772646322
NM_001349253.2(SCN11A):c.4109T>G (p.Ile1370Ser) rs772646322
NM_001349253.2(SCN11A):c.4117A>G (p.Ile1373Val) rs199558321
NM_001349253.2(SCN11A):c.4120A>G (p.Ser1374Gly)
NM_001349253.2(SCN11A):c.4143_4148del (p.Ile1381_Ser1382del)
NM_001349253.2(SCN11A):c.4238G>A (p.Cys1413Tyr)
NM_001349253.2(SCN11A):c.4247A>G (p.Lys1416Arg)
NM_001349253.2(SCN11A):c.4298A>T (p.Asp1433Val)
NM_001349253.2(SCN11A):c.4496A>G (p.Asn1499Ser)
NM_001349253.2(SCN11A):c.4551C>A (p.Asn1517Lys)
NM_001349253.2(SCN11A):c.4610_4611del (p.Phe1537fs)
NM_001349253.2(SCN11A):c.4618A>G (p.Ser1540Gly)
NM_001349253.2(SCN11A):c.4621A>G (p.Met1541Val) rs2064691385
NM_001349253.2(SCN11A):c.4654G>A (p.Gly1552Ser)
NM_001349253.2(SCN11A):c.4714G>A (p.Glu1572Lys)
NM_001349253.2(SCN11A):c.4745C>G (p.Ser1582Cys)
NM_001349253.2(SCN11A):c.479A>C (p.Asp160Ala)
NM_001349253.2(SCN11A):c.4823A>G (p.Asn1608Ser)
NM_001349253.2(SCN11A):c.4858G>A (p.Glu1620Lys)
NM_001349253.2(SCN11A):c.4921A>C (p.Ile1641Leu)
NM_001349253.2(SCN11A):c.4972C>T (p.Arg1658Cys)
NM_001349253.2(SCN11A):c.4985C>T (p.Pro1662Leu)
NM_001349253.2(SCN11A):c.5017C>G (p.Pro1673Ala)
NM_001349253.2(SCN11A):c.5022G>A (p.Met1674Ile)
NM_001349253.2(SCN11A):c.5062G>A (p.Ala1688Thr)
NM_001349253.2(SCN11A):c.5087G>C (p.Gly1696Ala)
NM_001349253.2(SCN11A):c.5105G>A (p.Ser1702Asn)
NM_001349253.2(SCN11A):c.5144_5146delinsTAGTTGTATGAACTCTATGAA (p.Asn1715_Pro1716delinsIleValValTer)
NM_001349253.2(SCN11A):c.5162A>G (p.Tyr1721Cys)
NM_001349253.2(SCN11A):c.5209GCT[1] (p.Ala1738del)
NM_001349253.2(SCN11A):c.520G>A (p.Ala174Thr)
NM_001349253.2(SCN11A):c.520G>C (p.Ala174Pro) rs748548157
NM_001349253.2(SCN11A):c.521C>T (p.Ala174Val)
NM_001349253.2(SCN11A):c.526A>G (p.Ile176Val)
NM_001349253.2(SCN11A):c.5299C>T (p.His1767Tyr)
NM_001349253.2(SCN11A):c.5357G>A (p.Gly1786Asp)
NM_001349253.2(SCN11A):c.5366A>G (p.His1789Arg)
NM_001349253.2(SCN11A):c.550A>G (p.Ile184Val)
NM_001349253.2(SCN11A):c.58A>T (p.Thr20Ser)
NM_001349253.2(SCN11A):c.601A>G (p.Ile201Val)
NM_001349253.2(SCN11A):c.646A>G (p.Ile216Val)
NM_001349253.2(SCN11A):c.686C>G (p.Ala229Gly) rs2125552666
NM_001349253.2(SCN11A):c.70_71del (p.Leu24fs)
NM_001349253.2(SCN11A):c.712+1G>A rs768647693
NM_001349253.2(SCN11A):c.727G>A (p.Val243Met)
NM_001349253.2(SCN11A):c.764A>G (p.Asn255Ser)
NM_001349253.2(SCN11A):c.79A>G (p.Ile27Val)
NM_001349253.2(SCN11A):c.847T>G (p.Cys283Gly)
NM_001349253.2(SCN11A):c.854C>G (p.Ser285Trp) rs765170928
NM_001349253.2(SCN11A):c.862T>C (p.Cys288Arg) rs2125548468
NM_001349253.2(SCN11A):c.915A>C (p.Glu305Asp)
NM_001349253.2(SCN11A):c.935T>C (p.Met312Thr) rs2066018798
NM_001349253.2(SCN11A):c.975A>C (p.Gln325His)

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