ClinVar Miner

List of variants in gene HCN1 reported as uncertain significance for brain disorder

Included ClinVar conditions (1840):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 339
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HGVS dbSNP gnomAD frequency
NM_021072.4(HCN1):c.136G>T (p.Gly46Cys) rs1031913850 0.00010
NM_021072.4(HCN1):c.2390T>G (p.Val797Gly) rs150936707 0.00010
NM_021072.4(HCN1):c.2606G>A (p.Arg869Lys) rs372807250 0.00007
NM_021072.4(HCN1):c.2099C>A (p.Thr700Asn) rs1352995652 0.00004
NM_021072.4(HCN1):c.280A>G (p.Met94Val) rs773441535 0.00004
NM_021072.4(HCN1):c.1777C>G (p.Arg593Gly) rs989268235 0.00003
NM_021072.4(HCN1):c.255G>T (p.Glu85Asp) rs868228427 0.00003
NM_021072.4(HCN1):c.1400G>A (p.Arg467Gln) rs773990933 0.00002
NM_021072.4(HCN1):c.160G>C (p.Gly54Arg) rs1245405853 0.00002
NM_021072.4(HCN1):c.1657G>A (p.Val553Ile) rs924134838 0.00002
NM_021072.4(HCN1):c.1856A>C (p.Asn619Thr) rs778783214 0.00002
NM_021072.4(HCN1):c.1975C>T (p.Arg659Cys) rs745561895 0.00002
NM_021072.4(HCN1):c.1977C>T (p.Arg659=) rs1282221978 0.00002
NM_021072.4(HCN1):c.1042G>A (p.Ala348Thr) rs1333872397 0.00001
NM_021072.4(HCN1):c.1141G>A (p.Val381Ile) rs750838439 0.00001
NM_021072.4(HCN1):c.1351A>G (p.Asn451Asp) rs945853543 0.00001
NM_021072.4(HCN1):c.1519G>A (p.Ala507Thr) rs1685224516 0.00001
NM_021072.4(HCN1):c.158A>C (p.His53Pro) rs1554040137 0.00001
NM_021072.4(HCN1):c.1655G>C (p.Ser552Thr) rs936848980 0.00001
NM_021072.4(HCN1):c.1778G>A (p.Arg593Gln) rs769934821 0.00001
NM_021072.4(HCN1):c.1834G>A (p.Gly612Ser) rs1744776622 0.00001
NM_021072.4(HCN1):c.2105C>T (p.Ala702Val) rs147007826 0.00001
NM_021072.4(HCN1):c.239G>A (p.Gly80Asp) rs1252720341 0.00001
NM_021072.4(HCN1):c.2419A>G (p.Thr807Ala) rs1035068089 0.00001
NM_021072.4(HCN1):c.2491G>A (p.Gly831Ser) rs780209007 0.00001
NM_021072.4(HCN1):c.2615C>T (p.Ser872Phe) rs199774910 0.00001
NM_021072.4(HCN1):c.266G>A (p.Arg89Gln) rs1739997928 0.00001
NM_021072.4(HCN1):c.303G>A (p.Met101Ile) rs1456742212 0.00001
NM_021072.4(HCN1):c.678C>G (p.Phe226Leu) rs754468811 0.00001
NM_021072.4(HCN1):c.703A>G (p.Ile235Val) rs377021158 0.00001
NC_000005.10:g.(?_45261901)_(45696113_?)dup
NC_000005.10:g.(?_45261921)_(45303839_?)del
NC_000005.10:g.(?_45353080)_(45696113_?)dup
NC_000005.10:g.(?_45645165)_(45645628_?)dup
NC_000005.10:g.(?_45645165)_(45696113_?)dup
NC_000005.10:g.(?_45695649)_(45696113_?)dup
NC_000005.10:g.45461997_45462008del rs2111627345
NC_000005.9:g.(?_45262023)_(45267375_?)del
NC_000005.9:g.(?_45262023)_(45645730_?)dup
NC_000005.9:g.(?_45262023)_(45696195_?)dup
NC_000005.9:g.(?_45267171)_(45696195_?)dup
NC_000005.9:g.(?_45267181)_(45696195_?)dup
NC_000005.9:g.(?_45396574)_(45696215_?)dup
NC_000005.9:g.(?_45396584)_(45696195_?)dup
NC_000005.9:g.(?_45695973)_(45696385_?)del
NM_021072.3(HCN1):c.-25_1230+?dup1255
NM_021072.4(HCN1):c.-189_221del (p.Met1fs) rs1580055165
NM_021072.4(HCN1):c.-25_425del (p.Met1_Arg142del) rs1739994846
NM_021072.4(HCN1):c.1008G>C (p.Met336Ile) rs1051256215
NM_021072.4(HCN1):c.1012-3C>T rs1739694635
NM_021072.4(HCN1):c.101C>T (p.Ala34Val) rs1740005052
NM_021072.4(HCN1):c.1025dup (p.Gln344fs)
NM_021072.4(HCN1):c.1028A>G (p.Lys343Arg) rs2112040825
NM_021072.4(HCN1):c.102G>A (p.Ala34=) rs2112109599
NM_021072.4(HCN1):c.1041C>A (p.Tyr347Ter)
NM_021072.4(HCN1):c.1045C>G (p.Leu349Val)
NM_021072.4(HCN1):c.104C>T (p.Ala35Val)
NM_021072.4(HCN1):c.1068G>T (p.Met356Ile)
NM_021072.4(HCN1):c.106G>C (p.Glu36Gln)
NM_021072.4(HCN1):c.107A>C (p.Glu36Ala) rs2112109568
NM_021072.4(HCN1):c.107A>G (p.Glu36Gly) rs2112109568
NM_021072.4(HCN1):c.1109C>T (p.Ser370Phe) rs2112040755
NM_021072.4(HCN1):c.1129C>G (p.Leu377Val) rs2112040746
NM_021072.4(HCN1):c.112C>A (p.Arg38Ser) rs2112109560
NM_021072.4(HCN1):c.1138A>T (p.Ile380Phe) rs2112040738
NM_021072.4(HCN1):c.1139T>A (p.Ile380Asn)
NM_021072.4(HCN1):c.113G>A (p.Arg38His)
NM_021072.4(HCN1):c.1145G>C (p.Gly382Ala) rs1579867065
NM_021072.4(HCN1):c.1147G>A (p.Ala383Thr) rs1739692080
NM_021072.4(HCN1):c.1151C>T (p.Thr384Ile)
NM_021072.4(HCN1):c.1156_1158dup (p.Tyr386dup) rs2112040700
NM_021072.4(HCN1):c.1173_1174del (p.His392fs) rs1739691445
NM_021072.4(HCN1):c.1175A>C (p.His392Pro)
NM_021072.4(HCN1):c.1183G>A (p.Ala395Thr) rs1739691061
NM_021072.4(HCN1):c.1190T>A (p.Ile397Asn)
NM_021072.4(HCN1):c.1190T>G (p.Ile397Ser) rs2112040625
NM_021072.4(HCN1):c.1201G>A (p.Asp401Asn) rs587777491
NM_021072.4(HCN1):c.1214G>A (p.Arg405Gln) rs1351333514
NM_021072.4(HCN1):c.1216C>G (p.Gln406Glu) rs2112040583
NM_021072.4(HCN1):c.1227G>C (p.Glu409Asp) rs2112040574
NM_021072.4(HCN1):c.1228A>G (p.Lys410Glu) rs2112040568
NM_021072.4(HCN1):c.1229A>G (p.Lys410Arg) rs2112040564
NM_021072.4(HCN1):c.1230+1G>T rs1739690273
NM_021072.4(HCN1):c.1230+4A>C
NM_021072.4(HCN1):c.1232A>G (p.Tyr411Cys) rs2111983203
NM_021072.4(HCN1):c.1233T>G (p.Tyr411Ter)
NM_021072.4(HCN1):c.1260C>G (p.Phe420Leu)
NM_021072.4(HCN1):c.1266G>T (p.Lys422Asn)
NM_021072.4(HCN1):c.1283G>A (p.Arg428His) rs1265198753
NM_021072.4(HCN1):c.128C>A (p.Pro43Gln)
NM_021072.4(HCN1):c.1297G>T (p.Asp433Tyr)
NM_021072.4(HCN1):c.129G>A (p.Pro43=) rs1250800401
NM_021072.4(HCN1):c.1306G>A (p.Glu436Lys) rs1746946756
NM_021072.4(HCN1):c.1309C>G (p.His437Asp)
NM_021072.4(HCN1):c.130G>C (p.Gly44Arg) rs1421975269
NM_021072.4(HCN1):c.130G>T (p.Gly44Trp) rs1421975269
NM_021072.4(HCN1):c.1322G>A (p.Gly441Asp) rs1746946512
NM_021072.4(HCN1):c.1336G>A (p.Glu446Lys) rs1234068441
NM_021072.4(HCN1):c.1338G>T (p.Glu446Asp) rs878855067
NM_021072.4(HCN1):c.1339G>T (p.Glu447Ter) rs2111983087
NM_021072.4(HCN1):c.1361A>G (p.Asn454Ser)
NM_021072.4(HCN1):c.1375G>C (p.Glu459Gln) rs1375816918
NM_021072.4(HCN1):c.1377+19834C>T rs761223261
NM_021072.4(HCN1):c.1377+6A>T
NM_021072.4(HCN1):c.1380G>T (p.Glu460Asp)
NM_021072.4(HCN1):c.1382T>C (p.Ile461Thr) rs966376899
NM_021072.4(HCN1):c.1399C>T (p.Arg467Trp) rs1745674495
NM_021072.4(HCN1):c.139G>A (p.Gly47Arg)
NM_021072.4(HCN1):c.1400G>C (p.Arg467Pro) rs773990933
NM_021072.4(HCN1):c.1429G>A (p.Ala477Thr) rs1353247808
NM_021072.4(HCN1):c.1435G>A (p.Ala479Thr)
NM_021072.4(HCN1):c.1445del (p.Asn482fs) rs1745673600
NM_021072.4(HCN1):c.145G>A (p.Gly49Ser)
NM_021072.4(HCN1):c.1460T>C (p.Met487Thr)
NM_021072.4(HCN1):c.1462C>A (p.Leu488Met) rs2111905061
NM_021072.4(HCN1):c.1466G>A (p.Ser489Asn) rs1745673386
NM_021072.4(HCN1):c.1475G>A (p.Arg492Lys)
NM_021072.4(HCN1):c.149C>T (p.Ala50Val)
NM_021072.4(HCN1):c.1511G>A (p.Arg504Gln) rs2111904958
NM_021072.4(HCN1):c.1519G>T (p.Ala507Ser)
NM_021072.4(HCN1):c.1522G>T (p.Val508Leu) rs180790607
NM_021072.4(HCN1):c.1528A>G (p.Lys510Glu)
NM_021072.4(HCN1):c.1534dup (p.Met512fs) rs772669067
NM_021072.4(HCN1):c.1536G>A (p.Met512Ile) rs2111904917
NM_021072.4(HCN1):c.1540T>C (p.Phe514Leu) rs2111904910
NM_021072.4(HCN1):c.1543A>G (p.Ile515Val)
NM_021072.4(HCN1):c.1570A>G (p.Thr524Ala) rs1561096281
NM_021072.4(HCN1):c.1580G>C (p.Ser527Thr)
NM_021072.4(HCN1):c.1610_1613del (p.Tyr537fs) rs2111904787
NM_021072.4(HCN1):c.1618+6T>C
NM_021072.4(HCN1):c.1646G>A (p.Arg549His)
NM_021072.4(HCN1):c.166T>A (p.Ser56Thr)
NM_021072.4(HCN1):c.1679G>A (p.Arg560His) rs1744875525
NM_021072.4(HCN1):c.1691T>C (p.Leu564Pro)
NM_021072.4(HCN1):c.1696G>A (p.Val566Met) rs766943052
NM_021072.4(HCN1):c.1696G>T (p.Val566Leu)
NM_021072.4(HCN1):c.1709A>G (p.Asn570Ser)
NM_021072.4(HCN1):c.1742G>A (p.Arg581Lys)
NM_021072.4(HCN1):c.1742G>C (p.Arg581Thr)
NM_021072.4(HCN1):c.1753A>T (p.Thr585Ser) rs1561081327
NM_021072.4(HCN1):c.1780A>G (p.Ile594Val) rs1579766327
NM_021072.4(HCN1):c.1782A>T (p.Ile594=)
NM_021072.4(HCN1):c.1783+4C>G rs188586020
NM_021072.4(HCN1):c.1783+6C>A
NM_021072.4(HCN1):c.1793A>G (p.Asn598Ser)
NM_021072.4(HCN1):c.1798A>G (p.Ile600Val) rs2111840202
NM_021072.4(HCN1):c.1798A>T (p.Ile600Phe)
NM_021072.4(HCN1):c.1805T>C (p.Leu602Pro)
NM_021072.4(HCN1):c.1816C>T (p.Gln606Ter) rs2111840186
NM_021072.4(HCN1):c.1857C>A (p.Asn619Lys) rs754531784
NM_021072.4(HCN1):c.1857C>G (p.Asn619Lys) rs754531784
NM_021072.4(HCN1):c.1864C>T (p.Leu622Phe)
NM_021072.4(HCN1):c.1883A>C (p.His628Pro)
NM_021072.4(HCN1):c.1896G>T (p.Met632Ile) rs1226802525
NM_021072.4(HCN1):c.1900C>A (p.Gln634Lys) rs1561079474
NM_021072.4(HCN1):c.1916T>A (p.Ile639Asn)
NM_021072.4(HCN1):c.1925C>T (p.Pro642Leu)
NM_021072.4(HCN1):c.192TGGCGGCGG[4] (p.Gly69_Gly74dup) rs56064803
NM_021072.4(HCN1):c.192_206dup (p.Gly70_Gly74dup) rs1485709375
NM_021072.4(HCN1):c.192_215dup (p.Gly67_Gly74dup) rs1554040132
NM_021072.4(HCN1):c.1948A>C (p.Thr650Pro) rs776850213
NM_021072.4(HCN1):c.1949C>T (p.Thr650Ile)
NM_021072.4(HCN1):c.1952C>T (p.Ser651Leu)
NM_021072.4(HCN1):c.1955C>G (p.Ser652Cys)
NM_021072.4(HCN1):c.195CGG[3] (p.Gly74dup) rs1193693102
NM_021072.4(HCN1):c.1960A>G (p.Thr654Ala) rs1744773562
NM_021072.4(HCN1):c.1966C>A (p.Pro656Thr) rs1744773336
NM_021072.4(HCN1):c.1981A>T (p.Arg661Trp)
NM_021072.4(HCN1):c.1989A>T (p.Gln663His)
NM_021072.4(HCN1):c.1991C>T (p.Ser664Phe)
NM_021072.4(HCN1):c.1993C>T (p.Pro665Ser)
NM_021072.4(HCN1):c.1998G>A (p.Pro666=) rs758849997
NM_021072.4(HCN1):c.199G>A (p.Gly67Ser)
NM_021072.4(HCN1):c.2009C>A (p.Ala670Glu) rs142280884
NM_021072.4(HCN1):c.2018T>A (p.Leu673Gln)
NM_021072.4(HCN1):c.2019G>A (p.Leu673=) rs767602409
NM_021072.4(HCN1):c.201_218del (p.Gly69_Gly74del) rs774065762
NM_021072.4(HCN1):c.201_218dup (p.Gly69_Gly74dup) rs774065762
NM_021072.4(HCN1):c.2038T>C (p.Ser680Pro)
NM_021072.4(HCN1):c.203G>A (p.Gly68Asp)
NM_021072.4(HCN1):c.203GCG[11] (p.Gly71_Gly74dup) rs747975797
NM_021072.4(HCN1):c.203GCG[13] (p.Gly74_Glu75insGlyGlyGlyGlyGlyGly)
NM_021072.4(HCN1):c.203GCG[3] (p.Gly71_Gly74del) rs747975797
NM_021072.4(HCN1):c.203GCG[6] (p.Gly74del) rs747975797
NM_021072.4(HCN1):c.203GCG[9] (p.Gly73_Gly74dup) rs747975797
NM_021072.4(HCN1):c.2045G>C (p.Ser682Thr)
NM_021072.4(HCN1):c.2048C>T (p.Pro683Leu) rs2111839618
NM_021072.4(HCN1):c.204_205insAGCCTCAGCTTCAGCACCAGCCGCACCGGAGCCCGGACCGCAGCCACTAAG (p.Gly68_Gly69insSerLeuSerPheSerThrSerArgThrGlyAlaArgThrAlaAlaThrLys)
NM_021072.4(HCN1):c.2050A>C (p.Ser684Arg)
NM_021072.4(HCN1):c.2062C>A (p.Pro688Thr) rs779436110
NM_021072.4(HCN1):c.2062C>T (p.Pro688Ser) rs779436110
NM_021072.4(HCN1):c.2063C>T (p.Pro688Leu)
NM_021072.4(HCN1):c.2066A>C (p.Gln689Pro)
NM_021072.4(HCN1):c.2068C>A (p.Pro690Thr)
NM_021072.4(HCN1):c.2075C>G (p.Ala692Gly) rs1561079301
NM_021072.4(HCN1):c.2080C>G (p.Leu694Val) rs1222433760
NM_021072.4(HCN1):c.209G>A (p.Gly70Asp)
NM_021072.4(HCN1):c.20C>G (p.Pro7Arg)
NM_021072.4(HCN1):c.2106G>A (p.Ala702=) rs1344539030
NM_021072.4(HCN1):c.2111G>A (p.Cys704Tyr) rs1293827335
NM_021072.4(HCN1):c.2122G>A (p.Val708Ile)
NM_021072.4(HCN1):c.2125_2126del (p.Gln709fs) rs1744766400
NM_021072.4(HCN1):c.214G>A (p.Gly72Ser)
NM_021072.4(HCN1):c.2161T>A (p.Ser721Thr)
NM_021072.4(HCN1):c.2165C>T (p.Pro722Leu) rs2111839334
NM_021072.4(HCN1):c.216_224dup (p.Gly74_Glu75insAspGlyGly) rs2112109175
NM_021072.4(HCN1):c.2170G>T (p.Ala724Ser) rs141383188
NM_021072.4(HCN1):c.2173T>A (p.Ser725Thr)
NM_021072.4(HCN1):c.2180T>C (p.Leu727Pro)
NM_021072.4(HCN1):c.2189T>C (p.Met730Thr) rs1744764294
NM_021072.4(HCN1):c.2210A>T (p.Gln737Leu)
NM_021072.4(HCN1):c.2216A>G (p.Gln739Arg) rs1418945597
NM_021072.4(HCN1):c.2237C>T (p.Thr746Ile)
NM_021072.4(HCN1):c.223_224insTCG (p.Gly74_Glu75insVal)
NM_021072.4(HCN1):c.2246A>C (p.Gln749Pro)
NM_021072.4(HCN1):c.2248C>G (p.Gln750Glu)
NM_021072.4(HCN1):c.2252C>T (p.Pro751Leu)
NM_021072.4(HCN1):c.2258C>T (p.Pro753Leu)
NM_021072.4(HCN1):c.225G>C (p.Glu75Asp) rs2112109170
NM_021072.4(HCN1):c.225_245dup (p.Glu82_Asp83insGluProAlaGlyGlyPheGlu)
NM_021072.4(HCN1):c.2260C>T (p.Gln754Ter) rs1744762137
NM_021072.4(HCN1):c.2261A>G (p.Gln754Arg) rs2111839088
NM_021072.4(HCN1):c.2279G>C (p.Ser760Thr) rs1744761859
NM_021072.4(HCN1):c.2288C>G (p.Pro763Arg) rs1437053801
NM_021072.4(HCN1):c.2296G>A (p.Glu766Lys)
NM_021072.4(HCN1):c.2302C>G (p.His768Asp) rs760215449
NM_021072.4(HCN1):c.2303A>G (p.His768Arg) rs1561079128
NM_021072.4(HCN1):c.2314C>G (p.Gln772Glu)
NM_021072.4(HCN1):c.2318C>G (p.Ala773Gly)
NM_021072.4(HCN1):c.2329A>G (p.Thr777Ala) rs1307516754
NM_021072.4(HCN1):c.2339C>T (p.Thr780Ile)
NM_021072.4(HCN1):c.2351G>A (p.Arg784Lys)
NM_021072.4(HCN1):c.2375C>T (p.Ser792Leu)
NM_021072.4(HCN1):c.238G>T (p.Gly80Cys) rs754990881
NM_021072.4(HCN1):c.2396C>T (p.Thr799Ile) rs766397326
NM_021072.4(HCN1):c.239del (p.Gly80fs)
NM_021072.4(HCN1):c.2404T>C (p.Ser802Pro) rs1461281527
NM_021072.4(HCN1):c.2405C>G (p.Ser802Cys) rs1744759169
NM_021072.4(HCN1):c.2420C>G (p.Thr807Ser) rs1244303801
NM_021072.4(HCN1):c.2445_2447dup (p.Pro816_Gln817insPro)
NM_021072.4(HCN1):c.2447C>G (p.Pro816Arg) rs1413473165
NM_021072.4(HCN1):c.2455G>A (p.Val819Met)
NM_021072.4(HCN1):c.2459_2460insCCT (p.Thr820_Ala821insLeu)
NM_021072.4(HCN1):c.2477G>A (p.Gly826Asp) rs1204287489
NM_021072.4(HCN1):c.2488G>A (p.Gly830Arg) rs1484753978
NM_021072.4(HCN1):c.2492G>T (p.Gly831Val)
NM_021072.4(HCN1):c.2495G>A (p.Arg832Lys) rs199887416
NM_021072.4(HCN1):c.2495G>C (p.Arg832Thr) rs199887416
NM_021072.4(HCN1):c.2499C>A (p.Ser833Arg)
NM_021072.4(HCN1):c.2515G>T (p.Val839Phe) rs1328423751
NM_021072.4(HCN1):c.2527C>G (p.Arg843Gly) rs1046832984
NM_021072.4(HCN1):c.2528G>A (p.Arg843Gln)
NM_021072.4(HCN1):c.2540C>G (p.Ser847Trp)
NM_021072.4(HCN1):c.2545G>T (p.Ala849Ser)
NM_021072.4(HCN1):c.2551C>G (p.Pro851Ala)
NM_021072.4(HCN1):c.2551C>T (p.Pro851Ser)
NM_021072.4(HCN1):c.2555C>G (p.Pro852Arg)
NM_021072.4(HCN1):c.2555C>T (p.Pro852Leu)
NM_021072.4(HCN1):c.2559C>A (p.Asn853Lys) rs140186173
NM_021072.4(HCN1):c.2559C>G (p.Asn853Lys)
NM_021072.4(HCN1):c.2564G>A (p.Gly855Glu) rs755932633
NM_021072.4(HCN1):c.2566G>C (p.Val856Leu)
NM_021072.4(HCN1):c.2571del (p.Pro858fs)
NM_021072.4(HCN1):c.2581C>G (p.Pro861Ala)
NM_021072.4(HCN1):c.2590G>A (p.Ala864Thr)
NM_021072.4(HCN1):c.2605A>G (p.Arg869Gly)
NM_021072.4(HCN1):c.2612C>T (p.Ser871Phe) rs1744747998
NM_021072.4(HCN1):c.2620G>C (p.Val874Leu)
NM_021072.4(HCN1):c.2636C>G (p.Pro879Arg)
NM_021072.4(HCN1):c.2636C>T (p.Pro879Leu)
NM_021072.4(HCN1):c.263G>T (p.Arg88Leu) rs1173138693
NM_021072.4(HCN1):c.2641G>A (p.Ala881Thr)
NM_021072.4(HCN1):c.2660C>T (p.Ala887Val)
NM_021072.4(HCN1):c.274G>A (p.Gly92Ser)
NM_021072.4(HCN1):c.274_294dup (p.Gly92_Phe98dup) rs747066400
NM_021072.4(HCN1):c.278_298dup (p.Phe93_Thr99dup) rs1255874115
NM_021072.4(HCN1):c.282G>A (p.Met94Ile) rs748665278
NM_021072.4(HCN1):c.290A>G (p.Gln97Arg) rs1580055035
NM_021072.4(HCN1):c.290del (p.Gln97fs) rs2112108952
NM_021072.4(HCN1):c.295_296delinsGG (p.Thr99Gly) rs1739996970
NM_021072.4(HCN1):c.301A>G (p.Met101Val) rs1739996550
NM_021072.4(HCN1):c.346A>G (p.Ser116Gly)
NM_021072.4(HCN1):c.370C>A (p.Gln124Lys)
NM_021072.4(HCN1):c.373G>A (p.Glu125Lys)
NM_021072.4(HCN1):c.37A>T (p.Ser13Cys)
NM_021072.4(HCN1):c.386C>A (p.Thr129Asn)
NM_021072.4(HCN1):c.388G>T (p.Ala130Ser)
NM_021072.4(HCN1):c.422T>G (p.Phe141Cys) rs2112108772
NM_021072.4(HCN1):c.423C>G (p.Phe141Leu) rs2112108769
NM_021072.4(HCN1):c.451A>G (p.Ile151Val) rs890733454
NM_021072.4(HCN1):c.469C>A (p.Leu157Ile) rs1561230606
NM_021072.4(HCN1):c.46G>A (p.Asp16Asn) rs1283834151
NM_021072.4(HCN1):c.477C>G (p.Ile159Met) rs1745533139
NM_021072.4(HCN1):c.484G>C (p.Val162Leu)
NM_021072.4(HCN1):c.508C>A (p.Gln170Lys)
NM_021072.4(HCN1):c.530T>C (p.Ile177Thr)
NM_021072.4(HCN1):c.558C>G (p.Phe186Leu) rs1060500097
NM_021072.4(HCN1):c.577A>C (p.Asn193His)
NM_021072.4(HCN1):c.58_283del (p.Val20fs)
NM_021072.4(HCN1):c.616A>G (p.Ile206Val) rs1444972054
NM_021072.4(HCN1):c.670G>T (p.Val224Phe)
NM_021072.4(HCN1):c.67G>T (p.Ala23Ser)
NM_021072.4(HCN1):c.694G>A (p.Val232Met) rs1745529492
NM_021072.4(HCN1):c.705C>G (p.Ile235Met)
NM_021072.4(HCN1):c.719A>G (p.Glu240Gly) rs2112031908
NM_021072.4(HCN1):c.71A>C (p.Lys24Thr)
NM_021072.4(HCN1):c.720A>T (p.Glu240Asp) rs1554037379
NM_021072.4(HCN1):c.721A>T (p.Lys241Ter)
NM_021072.4(HCN1):c.727A>G (p.Met243Val) rs1745528879
NM_021072.4(HCN1):c.728T>C (p.Met243Thr)
NM_021072.4(HCN1):c.72G>C (p.Lys24Asn)
NM_021072.4(HCN1):c.734C>T (p.Ser245Phe) rs1561230479
NM_021072.4(HCN1):c.74C>A (p.Ala25Glu) rs1469192494
NM_021072.4(HCN1):c.75_104del (p.Ser26_Ala35del)
NM_021072.4(HCN1):c.763C>T (p.Arg255Cys) rs1745528455
NM_021072.4(HCN1):c.790A>T (p.Ser264Cys) rs763339068
NM_021072.4(HCN1):c.793C>A (p.Leu265Ile) rs1745528201
NM_021072.4(HCN1):c.79G>A (p.Ala27Thr) rs1740005870
NM_021072.4(HCN1):c.808C>T (p.Arg270Ter) rs541911994
NM_021072.4(HCN1):c.809G>A (p.Arg270Gln) rs2112031730
NM_021072.4(HCN1):c.823_826del (p.Ile275fs)
NM_021072.4(HCN1):c.831C>G (p.Tyr277Ter) rs1745526984
NM_021072.4(HCN1):c.832A>G (p.Ile278Val)
NM_021072.4(HCN1):c.844G>A (p.Glu282Lys)
NM_021072.4(HCN1):c.849+18_849+23del
NM_021072.4(HCN1):c.849+66420G>T rs986310668
NM_021072.4(HCN1):c.851T>C (p.Ile284Thr) rs1741171789
NM_021072.4(HCN1):c.859A>C (p.Met287Leu)
NM_021072.4(HCN1):c.870T>G (p.Asp290Glu)
NM_021072.4(HCN1):c.883G>A (p.Val295Met)
NM_021072.4(HCN1):c.894T>G (p.Ile298Met)
NM_021072.4(HCN1):c.899A>T (p.Asn300Ile)
NM_021072.4(HCN1):c.8G>T (p.Gly3Val)
NM_021072.4(HCN1):c.91G>T (p.Gly31Trp) rs2112109649
NM_021072.4(HCN1):c.928C>T (p.His310Tyr) rs2111627182
NM_021072.4(HCN1):c.935A>T (p.Asp312Val) rs1741169756
NM_021072.4(HCN1):c.937G>A (p.Gly313Ser) rs2111627146
NM_021072.4(HCN1):c.959C>T (p.Pro320Leu) rs2111627083
NM_021072.4(HCN1):c.990G>C (p.Trp330Cys) rs794727517

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