ClinVar Miner

List of variants in gene combination ANK2, LOC126807136 reported as uncertain significance for long QT syndrome

Included ClinVar conditions (78):
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Gene type:
ClinVar version:
Total variants: 127
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HGVS dbSNP gnomAD frequency
NM_001148.6(ANK2):c.6206G>A (p.Arg2069His) rs149645600 0.00065
NM_001148.6(ANK2):c.6228G>T (p.Lys2076Asn) rs144848998 0.00050
NM_001148.6(ANK2):c.5509G>A (p.Ala1837Thr) rs199527708 0.00024
NM_001148.6(ANK2):c.5651C>T (p.Ser1884Leu) rs150737736 0.00015
NM_001148.6(ANK2):c.6325G>A (p.Glu2109Lys) rs751026615 0.00009
NM_001148.6(ANK2):c.5570T>A (p.Val1857Glu) rs141212932 0.00006
NM_001148.6(ANK2):c.6143A>G (p.Gln2048Arg) rs201628725 0.00006
NM_001148.6(ANK2):c.6170C>T (p.Pro2057Leu) rs146531225 0.00005
NM_001148.6(ANK2):c.5314G>A (p.Ala1772Thr) rs199609429 0.00004
NM_001148.6(ANK2):c.5329G>C (p.Val1777Leu) rs886059014 0.00004
NM_001148.6(ANK2):c.5438T>C (p.Leu1813Pro) rs1554552296 0.00004
NM_001148.6(ANK2):c.5758G>A (p.Gly1920Arg) rs140189724 0.00004
NM_001148.6(ANK2):c.5495C>T (p.Thr1832Ile) rs144773694 0.00003
NM_001148.6(ANK2):c.5575C>A (p.Pro1859Thr) rs781312863 0.00003
NM_001148.6(ANK2):c.5588C>T (p.Thr1863Met) rs536962908 0.00003
NM_001148.6(ANK2):c.5741C>T (p.Pro1914Leu) rs1483719390 0.00003
NM_001148.6(ANK2):c.5777C>T (p.Pro1926Leu) rs764446660 0.00003
NM_001148.6(ANK2):c.5844C>G (p.His1948Gln) rs780648194 0.00003
NM_001148.6(ANK2):c.5249C>T (p.Thr1750Ile) rs1468122749 0.00002
NM_001148.6(ANK2):c.5426C>T (p.Ala1809Val) rs531261130 0.00002
NM_001148.6(ANK2):c.5515A>C (p.Thr1839Pro) rs763795429 0.00002
NM_001148.6(ANK2):c.5737C>T (p.Arg1913Cys) rs147547363 0.00002
NM_001148.6(ANK2):c.5786C>T (p.Ser1929Leu) rs779278730 0.00002
NM_001148.6(ANK2):c.6073G>A (p.Gly2025Ser) rs774595471 0.00002
NM_001148.6(ANK2):c.6100G>A (p.Gly2034Arg) rs764677814 0.00002
NM_001148.6(ANK2):c.6104C>T (p.Pro2035Leu) rs151268188 0.00002
NM_001148.6(ANK2):c.6119G>C (p.Arg2040Thr) rs140462708 0.00002
NM_001148.6(ANK2):c.6217A>G (p.Ile2073Val) rs749398563 0.00002
NM_001148.6(ANK2):c.5210T>C (p.Leu1737Ser) rs1458341997 0.00001
NM_001148.6(ANK2):c.5230G>A (p.Ala1744Thr) rs924439034 0.00001
NM_001148.6(ANK2):c.5327G>A (p.Arg1776Gln) rs150207892 0.00001
NM_001148.6(ANK2):c.5456C>T (p.Ala1819Val) rs753589550 0.00001
NM_001148.6(ANK2):c.5470T>C (p.Ser1824Pro) rs199473344 0.00001
NM_001148.6(ANK2):c.5507C>G (p.Ser1836Cys) rs2095587012 0.00001
NM_001148.6(ANK2):c.5597A>T (p.His1866Leu) rs2095596617 0.00001
NM_001148.6(ANK2):c.5599T>G (p.Ser1867Ala) rs771441107 0.00001
NM_001148.6(ANK2):c.5618G>A (p.Ser1873Asn) rs1227210695 0.00001
NM_001148.6(ANK2):c.5638C>T (p.Pro1880Ser) rs1262224136 0.00001
NM_001148.6(ANK2):c.5641G>T (p.Val1881Leu) rs762824375 0.00001
NM_001148.6(ANK2):c.5648C>A (p.Pro1883His) rs1182264095 0.00001
NM_001148.6(ANK2):c.5738G>A (p.Arg1913His) rs1480689138 0.00001
NM_001148.6(ANK2):c.5773C>T (p.His1925Tyr) rs1554553719 0.00001
NM_001148.6(ANK2):c.5836G>A (p.Asp1946Asn) rs200333546 0.00001
NM_001148.6(ANK2):c.5860G>T (p.Ala1954Ser) rs371556220 0.00001
NM_001148.6(ANK2):c.5957A>G (p.Glu1986Gly) rs1455187261 0.00001
NM_001148.6(ANK2):c.5981T>G (p.Met1994Arg) rs1217769701 0.00001
NM_001148.6(ANK2):c.6185C>G (p.Ala2062Gly) rs1194235291 0.00001
NM_001148.6(ANK2):c.5173A>G (p.Lys1725Glu)
NM_001148.6(ANK2):c.5182C>T (p.Leu1728Phe)
NM_001148.6(ANK2):c.5201A>G (p.Glu1734Gly) rs2095565316
NM_001148.6(ANK2):c.5213_5215del (p.Gly1738del) rs2095566161
NM_001148.6(ANK2):c.5227T>G (p.Leu1743Val)
NM_001148.6(ANK2):c.5231C>A (p.Ala1744Asp) rs147706514
NM_001148.6(ANK2):c.5234C>G (p.Pro1745Arg) rs751038588
NM_001148.6(ANK2):c.5305A>G (p.Lys1769Glu) rs1352494306
NM_001148.6(ANK2):c.5326C>G (p.Arg1776Gly) rs2095572224
NM_001148.6(ANK2):c.5351G>A (p.Arg1784Gln) rs777085522
NM_001148.6(ANK2):c.5351G>C (p.Arg1784Pro) rs777085522
NM_001148.6(ANK2):c.5365A>C (p.Ile1789Leu) rs527462024
NM_001148.6(ANK2):c.5382G>C (p.Lys1794Asn)
NM_001148.6(ANK2):c.5390T>C (p.Val1797Ala) rs2095576901
NM_001148.6(ANK2):c.5431C>A (p.Pro1811Thr) rs200645469
NM_001148.6(ANK2):c.5431C>T (p.Pro1811Ser) rs200645469
NM_001148.6(ANK2):c.5454T>G (p.His1818Gln) rs2154019711
NM_001148.6(ANK2):c.5461G>A (p.Gly1821Arg) rs2095583147
NM_001148.6(ANK2):c.5473C>T (p.Pro1825Ser)
NM_001148.6(ANK2):c.5497C>G (p.Leu1833Val) rs1194139877
NM_001148.6(ANK2):c.5497C>T (p.Leu1833Phe) rs1194139877
NM_001148.6(ANK2):c.5542T>G (p.Ser1848Ala) rs2095590693
NM_001148.6(ANK2):c.5552C>T (p.Thr1851Ile)
NM_001148.6(ANK2):c.5571_5642del (p.Ala1861_Ser1884del) rs2095591008
NM_001148.6(ANK2):c.5581G>A (p.Ala1861Thr) rs2095594880
NM_001148.6(ANK2):c.5582C>T (p.Ala1861Val) rs1588916046
NM_001148.6(ANK2):c.5603C>G (p.Pro1868Arg)
NM_001148.6(ANK2):c.5606C>T (p.Ala1869Val)
NM_001148.6(ANK2):c.5609C>T (p.Ser1870Leu) rs869025360
NM_001148.6(ANK2):c.5610ATC[1] (p.Ser1873del)
NM_001148.6(ANK2):c.5620A>G (p.Lys1874Glu) rs2154020296
NM_001148.6(ANK2):c.5626G>A (p.Glu1876Lys) rs1554553071
NM_001148.6(ANK2):c.5662G>A (p.Glu1888Lys)
NM_001148.6(ANK2):c.5666G>A (p.Arg1889Lys)
NM_001148.6(ANK2):c.5669A>C (p.His1890Pro)
NM_001148.6(ANK2):c.5677G>T (p.Val1893Leu) rs2095603402
NM_001148.6(ANK2):c.5710G>A (p.Val1904Ile) rs777799981
NM_001148.6(ANK2):c.5723G>A (p.Gly1908Asp)
NM_001148.6(ANK2):c.5726A>G (p.Lys1909Arg)
NM_001148.6(ANK2):c.5744C>T (p.Pro1915Leu)
NM_001148.6(ANK2):c.5777C>A (p.Pro1926Gln)
NM_001148.6(ANK2):c.5791G>A (p.Gly1931Arg)
NM_001148.6(ANK2):c.5807G>A (p.Arg1936His)
NM_001148.6(ANK2):c.5807G>T (p.Arg1936Leu)
NM_001148.6(ANK2):c.5815G>C (p.Val1939Leu) rs759195568
NM_001148.6(ANK2):c.5834C>T (p.Thr1945Met)
NM_001148.6(ANK2):c.5858C>T (p.Thr1953Ile) rs2154020988
NM_001148.6(ANK2):c.5887G>T (p.Val1963Leu)
NM_001148.6(ANK2):c.5893C>T (p.Pro1965Ser) rs2095620859
NM_001148.6(ANK2):c.5906C>T (p.Thr1969Ile)
NM_001148.6(ANK2):c.5920C>A (p.Pro1974Thr) rs1320080856
NM_001148.6(ANK2):c.5962A>C (p.Met1988Leu)
NM_001148.6(ANK2):c.5971C>T (p.Arg1991Trp) rs1442984107
NM_001148.6(ANK2):c.5972G>A (p.Arg1991Gln) rs755548985
NM_001148.6(ANK2):c.5972G>C (p.Arg1991Pro) rs755548985
NM_001148.6(ANK2):c.5972G>T (p.Arg1991Leu) rs755548985
NM_001148.6(ANK2):c.5984A>G (p.Lys1995Arg)
NM_001148.6(ANK2):c.6011C>G (p.Ser2004Cys)
NM_001148.6(ANK2):c.6016C>T (p.His2006Tyr)
NM_001148.6(ANK2):c.6041A>C (p.Lys2014Thr)
NM_001148.6(ANK2):c.6047C>T (p.Ala2016Val) rs769840245
NM_001148.6(ANK2):c.6062C>T (p.Pro2021Leu)
NM_001148.6(ANK2):c.6078A>T (p.Lys2026Asn) rs759970012
NM_001148.6(ANK2):c.6083G>A (p.Arg2028Gln)
NM_001148.6(ANK2):c.6083G>T (p.Arg2028Leu)
NM_001148.6(ANK2):c.6085G>C (p.Val2029Leu) rs1403186964
NM_001148.6(ANK2):c.6088G>A (p.Glu2030Lys) rs1226590997
NM_001148.6(ANK2):c.6134C>T (p.Thr2045Ile) rs1014242925
NM_001148.6(ANK2):c.6141T>G (p.Asn2047Lys)
NM_001148.6(ANK2):c.6148A>G (p.Ile2050Val)
NM_001148.6(ANK2):c.6158G>C (p.Gly2053Ala) rs2154021788
NM_001148.6(ANK2):c.6182C>T (p.Thr2061Ile)
NM_001148.6(ANK2):c.6267C>A (p.Ser2089Arg) rs2095651333
NM_001148.6(ANK2):c.6286G>A (p.Val2096Ile) rs781709192
NM_001148.6(ANK2):c.6304G>A (p.Glu2102Lys)
NM_001148.6(ANK2):c.6311G>A (p.Ser2104Asn)
NM_001148.6(ANK2):c.6316A>G (p.Arg2106Gly) rs1004588860
NM_001148.6(ANK2):c.6320A>G (p.Glu2107Gly) rs2095653777
NM_001148.6(ANK2):c.6331C>T (p.Pro2111Ser)
NM_001148.6(ANK2):c.6352G>A (p.Glu2118Lys)

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