ClinVar Miner

List of variants in gene CACNA1H reported by GeneDx

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 352
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HGVS dbSNP gnomAD frequency
NM_021098.3(CACNA1H):c.5245-129_5245-128insT rs11395347 0.98282
NM_021098.3(CACNA1H):c.6048+292T>C rs7195608 0.87098
NM_021098.3(CACNA1H):c.6048+162T>C rs4496143 0.85524
NM_021098.3(CACNA1H):c.6417T>C (p.Asp2139=) rs4247094 0.85388
NM_021098.3(CACNA1H):c.3957T>C (p.Asp1319=) rs8063574 0.85136
NM_021098.3(CACNA1H):c.4338T>C (p.Ile1446=) rs4984637 0.85027
NM_021098.3(CACNA1H):c.5244+127C>T rs3897150 0.84380
NM_021098.3(CACNA1H):c.5324-263C>G rs12930662 0.83778
NM_021098.3(CACNA1H):c.3064-39G>A rs12930875 0.78233
NM_021098.3(CACNA1H):c.5887+107A>G rs2738892 0.75440
NM_021098.3(CACNA1H):c.4278A>G (p.Ser1426=) rs2753325 0.65866
NM_021098.3(CACNA1H):c.4275A>G (p.Ser1425=) rs2753326 0.65842
NM_021098.3(CACNA1H):c.4350+83G>A rs2738900 0.65766
NM_021098.3(CACNA1H):c.6049-241A>G rs2745137 0.65098
NM_021098.3(CACNA1H):c.6049-301G>A rs2738895 0.65073
NM_021098.3(CACNA1H):c.6230G>A (p.Arg2077His) rs1054645 0.64981
NM_021098.3(CACNA1H):c.5730C>T (p.Asp1910=) rs2745136 0.64782
NM_021098.3(CACNA1H):c.*195G>A rs2248457 0.64722
NM_021098.3(CACNA1H):c.4224-49G>A rs2738899 0.64233
NM_021098.3(CACNA1H):c.5947T>C (p.Leu1983=) rs2738893 0.63925
NM_021098.3(CACNA1H):c.4223+53C>T rs2738898 0.62945
NM_021098.3(CACNA1H):c.4778-270G>A rs2738903 0.54732
NM_021098.3(CACNA1H):c.1809A>G (p.Arg603=) rs9934839 0.50649
NM_021098.3(CACNA1H):c.1107T>C (p.Ile369=) rs8044363 0.44103
NM_021098.3(CACNA1H):c.643+232A>C rs1005453 0.43865
NM_021098.3(CACNA1H):c.1213-101G>A rs8043905 0.43237
NM_021098.3(CACNA1H):c.2603+280T>C rs2745167 0.43187
NM_021098.3(CACNA1H):c.300-85T>A rs3751661 0.43048
NM_021098.3(CACNA1H):c.3745-308G>A rs12051002 0.39673
NM_021098.3(CACNA1H):c.5244+261C>T rs12920709 0.38661
NM_021098.3(CACNA1H):c.1919C>T (p.Pro640Leu) rs61734410 0.29755
NM_021098.3(CACNA1H):c.3846-16G>C rs764918796 0.27517
NM_021098.3(CACNA1H):c.3846-32G>C rs776363640 0.26069
NM_021098.3(CACNA1H):c.412-139G>A rs35250176 0.22699
NM_021098.3(CACNA1H):c.2451+119T>C rs11640345 0.22422
NM_021098.3(CACNA1H):c.2604-272C>T rs35482321 0.22131
NM_021098.3(CACNA1H):c.300-341C>T rs35198836 0.21842
NM_021098.3(CACNA1H):c.3846-27A>C rs768865795 0.20436
NM_021098.3(CACNA1H):c.1991T>C (p.Val664Ala) rs4984636 0.20272
NM_021098.3(CACNA1H):c.3155-73T>C rs2738896 0.19817
NM_021098.3(CACNA1H):c.2002+285G>C rs7191246 0.18750
NM_021098.3(CACNA1H):c.2452-323C>T rs71384633 0.16538
NM_021098.3(CACNA1H):c.644-244C>T rs11643076 0.16370
NM_021098.3(CACNA1H):c.2790-162T>C rs115172853 0.13061
NM_021098.3(CACNA1H):c.937A>G (p.Met313Val) rs36117280 0.12769
NM_021098.3(CACNA1H):c.5244+7G>A rs2235634 0.10432
NM_021098.3(CACNA1H):c.644-301C>G rs35907934 0.10221
NM_021098.3(CACNA1H):c.803+116C>T rs35395847 0.10188
NM_021098.3(CACNA1H):c.2603+125C>T rs2745165 0.10144
NM_021098.3(CACNA1H):c.804-283del rs34191558 0.10087
NM_021098.3(CACNA1H):c.1353C>T (p.Ser451=) rs9922076 0.09939
NM_021098.3(CACNA1H):c.1668C>T (p.Pro556=) rs2407083 0.09922
NM_021098.3(CACNA1H):c.803+163C>T rs7500621 0.09467
NM_021098.3(CACNA1H):c.4221G>A (p.Leu1407=) rs61910714 0.09043
NM_021098.3(CACNA1H):c.*101C>T rs2745138 0.08983
NM_021098.3(CACNA1H):c.6048+182C>T rs2738894 0.08972
NM_021098.3(CACNA1H):c.5721C>T (p.Gly1907=) rs2738891 0.08967
NM_021098.3(CACNA1H):c.6179G>A (p.Arg2060His) rs1054644 0.08945
NM_021098.3(CACNA1H):c.5244+28G>A rs2753322 0.08924
NM_021098.3(CACNA1H):c.5245-256G>A rs2753324 0.08840
NM_021098.3(CACNA1H):c.3744+44G>C rs2745166 0.08697
NM_021098.3(CACNA1H):c.2604-19C>T rs11646893 0.07745
NM_021098.3(CACNA1H):c.2362C>T (p.Arg788Cys) rs3751664 0.07491
NM_021098.3(CACNA1H):c.3064-136C>T rs2745155 0.07369
NM_021098.3(CACNA1H):c.2452-293C>T rs71384634 0.07300
NM_021098.3(CACNA1H):c.6123T>C (p.Gly2041=) rs3751889 0.05412
NM_021098.3(CACNA1H):c.412-71C>T rs59721152 0.05324
NM_021098.3(CACNA1H):c.5921A>G (p.Glu1974Gly) rs3751886 0.05247
NM_021098.3(CACNA1H):c.5888-141G>A rs11866966 0.05113
NM_021098.3(CACNA1H):c.5418G>C (p.Thr1806=) rs57135930 0.04916
NM_021098.3(CACNA1H):c.6013C>T (p.Arg2005Cys) rs72552056 0.04911
NM_021098.3(CACNA1H):c.2790-99C>G rs118070675 0.04775
NM_021098.3(CACNA1H):c.5778G>A (p.Ser1926=) rs60526088 0.04674
NM_021098.3(CACNA1H):c.6048+53A>G rs72552058 0.04593
NM_021098.3(CACNA1H):c.4930-270C>T rs72775449 0.04590
NM_021098.3(CACNA1H):c.4023G>A (p.Ala1341=) rs28365124 0.04584
NM_021098.3(CACNA1H):c.5245-203A>G rs67263891 0.04584
NM_021098.3(CACNA1H):c.5245-245G>A rs112734714 0.04462
NM_021098.3(CACNA1H):c.5612G>A (p.Arg1871Gln) rs58124832 0.04404
NM_021098.3(CACNA1H):c.3969+35C>T rs111903030 0.04234
NM_021098.3(CACNA1H):c.644-88C>T rs34873336 0.03822
NM_021098.3(CACNA1H):c.2452-281C>T rs71384635 0.03805
NM_021098.3(CACNA1H):c.390C>T (p.Ser130=) rs59794024 0.03762
NM_021098.3(CACNA1H):c.5244+298G>A rs71380250 0.03734
NM_021098.3(CACNA1H):c.3363+91G>A rs72552035 0.03400
NM_021098.3(CACNA1H):c.6048+13G>A rs3751888 0.03131
NM_021098.3(CACNA1H):c.803+279C>T rs191117454 0.03009
NM_021098.3(CACNA1H):c.2452-154_2452-153insA rs1344722130 0.02778
NM_021098.3(CACNA1H):c.804-160C>G rs114319122 0.02445
NM_021098.3(CACNA1H):c.2003-261C>T rs144819637 0.02315
NM_021098.3(CACNA1H):c.4476+30G>T rs72552044 0.02050
NM_021098.3(CACNA1H):c.4929+78T>C rs72552062 0.02035
NM_021098.3(CACNA1H):c.3364-104A>G rs112741452 0.01783
NM_021098.3(CACNA1H):c.411+40G>A rs72556375 0.01722
NM_021098.3(CACNA1H):c.4778-118G>T rs112290002 0.01606
NM_021098.3(CACNA1H):c.1212+23G>A rs60309396 0.01525
NM_021098.3(CACNA1H):c.5897C>T (p.Ala1966Val) rs72552054 0.01514
NM_021098.3(CACNA1H):c.3064-72G>A rs57335218 0.01439
NM_021098.3(CACNA1H):c.411+151G>A rs9939215 0.01374
NM_021098.3(CACNA1H):c.994G>A (p.Ala332Thr) rs59650398 0.01351
NM_021098.3(CACNA1H):c.2452-324_2452-323insTAGAT rs1567522075 0.01344
NM_021098.3(CACNA1H):c.546-10C>T rs35509671 0.01282
NM_021098.3(CACNA1H):c.93G>A (p.Glu31=) rs191613214 0.01279
NM_021098.3(CACNA1H):c.3738G>A (p.Ser1246=) rs58812334 0.01201
NM_021098.3(CACNA1H):c.5245-191G>C rs72552047 0.01151
NM_021098.3(CACNA1H):c.4350+35G>A rs12449100 0.01111
NM_021098.3(CACNA1H):c.4777+182A>G rs60416573 0.01090
NM_021098.3(CACNA1H):c.5173+37G>A rs200739898 0.00998
NM_021098.3(CACNA1H):c.3364-196G>A rs144298575 0.00972
NM_021098.3(CACNA1H):c.6939C>T (p.Pro2313=) rs59385968 0.00957
NM_021098.3(CACNA1H):c.6049-72G>A rs114708863 0.00955
NM_021098.3(CACNA1H):c.6234C>T (p.Cys2078=) rs59844753 0.00947
NM_021098.3(CACNA1H):c.1120-8C>T rs59091981 0.00928
NM_021098.3(CACNA1H):c.2452-31C>T rs72775445 0.00897
NM_021098.3(CACNA1H):c.4635C>T (p.Phe1545=) rs58110336 0.00885
NM_021098.3(CACNA1H):c.4929+18G>A rs59548273 0.00873
NM_021098.3(CACNA1H):c.2603+35C>T rs28365120 0.00862
NM_021098.3(CACNA1H):c.643+44G>A rs35907691 0.00851
NM_021098.3(CACNA1H):c.3364-52G>A rs12918216 0.00813
NM_021098.3(CACNA1H):c.2603+262G>A rs143249487 0.00765
NM_021098.3(CACNA1H):c.3175G>T (p.Ala1059Ser) rs41292285 0.00715
NM_021098.3(CACNA1H):c.644-87G>A rs116326670 0.00664
NM_021098.3(CACNA1H):c.803+68A>G rs140638186 0.00663
NM_021098.3(CACNA1H):c.5323+234A>G rs114380660 0.00646
NM_021098.3(CACNA1H):c.4038+41C>T rs61701475 0.00491
NM_021098.3(CACNA1H):c.2789+26G>A rs377181514 0.00410
NM_021098.3(CACNA1H):c.2002+164G>C rs116250967 0.00403
NM_021098.3(CACNA1H):c.270C>G (p.Arg90=) rs577235589 0.00390
NM_021098.3(CACNA1H):c.546-142C>T rs148444212 0.00390
NM_021098.3(CACNA1H):c.804-70A>G rs114858281 0.00386
NM_021098.3(CACNA1H):c.4314C>T (p.Cys1438=) rs60275734 0.00378
NM_021098.3(CACNA1H):c.411+83G>A rs532984461 0.00360
NM_021098.3(CACNA1H):c.489G>C (p.Gln163His) rs60593994 0.00318
NM_021098.3(CACNA1H):c.108G>C (p.Pro36=) rs28365126 0.00241
NM_021098.3(CACNA1H):c.6622G>A (p.Ala2208Thr) rs60445853 0.00223
NM_021098.3(CACNA1H):c.4420C>T (p.Arg1474Trp) rs57105517 0.00209
NM_021098.3(CACNA1H):c.*10T>A rs59336915 0.00202
NM_021098.3(CACNA1H):c.6934A>G (p.Met2312Val) rs58535913 0.00170
NM_021098.3(CACNA1H):c.6848A>T (p.Asp2283Val) rs58597457 0.00137
NM_021098.3(CACNA1H):c.4778-5C>T rs72552061 0.00130
NM_021098.3(CACNA1H):c.3792G>T (p.Gln1264His) rs200228767 0.00068
NM_021098.3(CACNA1H):c.1853C>T (p.Pro618Leu) rs60734921 0.00046
NM_021098.3(CACNA1H):c.1310G>A (p.Arg437Gln) rs59461207 0.00027
NM_021098.3(CACNA1H):c.1754C>T (p.Pro585Leu) rs372367313 0.00024
NM_021098.3(CACNA1H):c.379G>T (p.Glu127Ter) rs761719764 0.00023
NM_021098.3(CACNA1H):c.6440C>T (p.Pro2147Leu) rs748980218 0.00013
NM_021098.3(CACNA1H):c.5809G>A (p.Val1937Met) rs60040113 0.00011
NM_021098.3(CACNA1H):c.3988G>A (p.Val1330Ile) rs28365125 0.00010
NM_021098.3(CACNA1H):c.1673C>T (p.Ser558Leu) rs771714007 0.00009
NM_021098.3(CACNA1H):c.4579C>T (p.His1527Tyr) rs374265107 0.00007
NM_021098.3(CACNA1H):c.6817C>T (p.Leu2273Phe) rs201577113 0.00007
NM_021098.3(CACNA1H):c.3554C>T (p.Ala1185Val) rs769568324 0.00006
NM_021098.3(CACNA1H):c.4045G>A (p.Ala1349Thr) rs200400235 0.00006
NM_021098.3(CACNA1H):c.3449G>A (p.Arg1150His) rs373762102 0.00005
NM_021098.3(CACNA1H):c.6578C>T (p.Ser2193Leu) rs748432349 0.00005
NM_021098.3(CACNA1H):c.1985A>G (p.His662Arg) rs768565046 0.00004
NM_021098.3(CACNA1H):c.3730G>A (p.Asp1244Asn) rs372126787 0.00004
NM_021098.3(CACNA1H):c.3845G>A (p.Arg1282Gln) rs764530568 0.00004
NM_021098.3(CACNA1H):c.412G>A (p.Ala138Thr) rs931243903 0.00004
NM_021098.3(CACNA1H):c.908C>T (p.Ser303Leu) rs867008505 0.00004
NM_021098.3(CACNA1H):c.2650C>T (p.Arg884Cys) rs762653776 0.00003
NM_021098.3(CACNA1H):c.2662C>A (p.Leu888Met) rs868696475 0.00003
NM_021098.3(CACNA1H):c.2716G>A (p.Val906Met) rs536557648 0.00003
NM_021098.3(CACNA1H):c.3469C>T (p.Arg1157Cys) rs1057523326 0.00003
NM_021098.3(CACNA1H):c.1421G>A (p.Arg474His) rs769636919 0.00002
NM_021098.3(CACNA1H):c.2071G>A (p.Gly691Ser) rs377664706 0.00002
NM_021098.3(CACNA1H):c.3646G>A (p.Asp1216Asn) rs754581272 0.00002
NM_021098.3(CACNA1H):c.6382G>A (p.Gly2128Ser) rs748564400 0.00002
NM_021098.3(CACNA1H):c.6544C>T (p.Arg2182Cys) rs1244507563 0.00002
NM_021098.3(CACNA1H):c.6617C>T (p.Pro2206Leu) rs754398374 0.00002
NM_021098.3(CACNA1H):c.830C>T (p.Pro277Leu) rs372848579 0.00002
NM_021098.3(CACNA1H):c.1025A>G (p.Gln342Arg) rs1171167857 0.00001
NM_021098.3(CACNA1H):c.1093G>T (p.Gly365Cys) rs757422637 0.00001
NM_021098.3(CACNA1H):c.1127C>T (p.Thr376Met) rs758285252 0.00001
NM_021098.3(CACNA1H):c.1171C>T (p.His391Tyr) rs1401713017 0.00001
NM_021098.3(CACNA1H):c.2389C>T (p.Arg797Cys) rs183042575 0.00001
NM_021098.3(CACNA1H):c.2497A>G (p.Thr833Ala) rs1051410307 0.00001
NM_021098.3(CACNA1H):c.2537C>T (p.Ala846Val) rs779724136 0.00001
NM_021098.3(CACNA1H):c.2708G>A (p.Arg903His) rs1057520721 0.00001
NM_021098.3(CACNA1H):c.3019T>C (p.Phe1007Leu) rs764517695 0.00001
NM_021098.3(CACNA1H):c.3241G>A (p.Ala1081Thr) rs1330404120 0.00001
NM_021098.3(CACNA1H):c.3470G>A (p.Arg1157His) rs772040768 0.00001
NM_021098.3(CACNA1H):c.3744+1G>A rs770718464 0.00001
NM_021098.3(CACNA1H):c.3901C>T (p.Leu1301Phe) rs1969297546 0.00001
NM_021098.3(CACNA1H):c.4145C>T (p.Ala1382Val) rs566220434 0.00001
NM_021098.3(CACNA1H):c.4195C>T (p.Arg1399Cys) rs374596109 0.00001
NM_021098.3(CACNA1H):c.4423G>C (p.Ala1475Pro) rs1344413563 0.00001
NM_021098.3(CACNA1H):c.4586C>T (p.Pro1529Leu) rs1057522839 0.00001
NM_021098.3(CACNA1H):c.4645A>G (p.Met1549Val) rs786205050 0.00001
NM_021098.3(CACNA1H):c.4711C>T (p.Arg1571Trp) rs58725680 0.00001
NM_021098.3(CACNA1H):c.4929+5G>A rs1054400971 0.00001
NM_021098.3(CACNA1H):c.5677C>T (p.Arg1893Trp) rs899082537 0.00001
NM_021098.3(CACNA1H):c.5696C>T (p.Pro1899Leu) rs750475467 0.00001
NM_021098.3(CACNA1H):c.5791A>T (p.Ser1931Cys) rs777593105 0.00001
NM_021098.3(CACNA1H):c.5905C>T (p.His1969Tyr) rs773386277 0.00001
NM_021098.3(CACNA1H):c.6159C>T (p.Gly2053=) rs755452106 0.00001
NM_021098.3(CACNA1H):c.6530C>T (p.Pro2177Leu) rs774592173 0.00001
NM_021098.3(CACNA1H):c.829C>T (p.Pro277Ser) rs201911360 0.00001
NM_021098.3(CACNA1H):c.-159GGCGGAGGCGCTGGGGGCCGGGGCCGGGGCCGGG[1] rs1339556967
NM_021098.3(CACNA1H):c.1016A>G (p.Asn339Ser)
NM_021098.3(CACNA1H):c.1142T>G (p.Val381Gly) rs932024389
NM_021098.3(CACNA1H):c.1179C>G (p.Phe393Leu)
NM_021098.3(CACNA1H):c.1212+12C>T rs8060577
NM_021098.3(CACNA1H):c.1213-183T>G rs76029271
NM_021098.3(CACNA1H):c.1220C>T (p.Ser407Phe) rs1326944134
NM_021098.3(CACNA1H):c.1222T>C (p.Phe408Leu)
NM_021098.3(CACNA1H):c.1241G>A (p.Cys414Tyr) rs781525428
NM_021098.3(CACNA1H):c.1274C>T (p.Thr425Met) rs370007023
NM_021098.3(CACNA1H):c.1328A>G (p.Asn443Ser) rs771750212
NM_021098.3(CACNA1H):c.1364G>A (p.Ser455Asn) rs1041969243
NM_021098.3(CACNA1H):c.1393G>A (p.Gly465Ser)
NM_021098.3(CACNA1H):c.1396C>T (p.His466Tyr)
NM_021098.3(CACNA1H):c.1462A>G (p.Lys488Glu)
NM_021098.3(CACNA1H):c.1565A>G (p.His522Arg) rs1967991363
NM_021098.3(CACNA1H):c.1609_1617del (p.Arg537_Pro539del) rs2141258642
NM_021098.3(CACNA1H):c.172C>G (p.Arg58Gly)
NM_021098.3(CACNA1H):c.1783_1788del (p.Ala595_Ala596del) rs762960317
NM_021098.3(CACNA1H):c.1793C>T (p.Ala598Val) rs1057518033
NM_021098.3(CACNA1H):c.1840C>A (p.Pro614Thr)
NM_021098.3(CACNA1H):c.1856C>G (p.Ser619Ter) rs1272295205
NM_021098.3(CACNA1H):c.1934_1935delinsT (p.Gly645fs)
NM_021098.3(CACNA1H):c.1956C>G (p.Asn652Lys)
NM_021098.3(CACNA1H):c.1969T>C (p.Tyr657His)
NM_021098.3(CACNA1H):c.1988T>C (p.Val663Ala) rs1401991327
NM_021098.3(CACNA1H):c.1997A>T (p.Glu666Val) rs926633519
NM_021098.3(CACNA1H):c.2002+147C>T rs9924677
NM_021098.3(CACNA1H):c.2002+67T>C rs115952318
NM_021098.3(CACNA1H):c.2003-103G>T rs4984768
NM_021098.3(CACNA1H):c.2003-279C>T rs75852667
NM_021098.3(CACNA1H):c.2041G>T (p.Val681Leu) rs1347965086
NM_021098.3(CACNA1H):c.2054T>C (p.Leu685Pro) rs2141277907
NM_021098.3(CACNA1H):c.2063C>T (p.Pro688Leu) rs2141277985
NM_021098.3(CACNA1H):c.2146G>T (p.Gly716Cys) rs187225648
NM_021098.3(CACNA1H):c.2209_2286delinsAGCAGA (p.Gly737_Arg761delinsSer) rs1555513044
NM_021098.3(CACNA1H):c.226G>A (p.Ala76Thr) rs1555498216
NM_021098.3(CACNA1H):c.233C>A (p.Thr78Lys) rs1473122688
NM_021098.3(CACNA1H):c.2371G>T (p.Asp791Tyr) rs2141281388
NM_021098.3(CACNA1H):c.2405C>G (p.Ala802Gly) rs781441262
NM_021098.3(CACNA1H):c.2420C>A (p.Thr807Lys)
NM_021098.3(CACNA1H):c.2426G>A (p.Ser809Asn) rs2141281981
NM_021098.3(CACNA1H):c.2451+105C>T rs116880320
NM_021098.3(CACNA1H):c.2451+177G>A
NM_021098.3(CACNA1H):c.2452-153_2452-70del rs1567522322
NM_021098.3(CACNA1H):c.2452-321_2452-320insTGCCGGGGAGGGGTGGGAGCCGTGGGTGGGGCCCTAG rs1567522091
NM_021098.3(CACNA1H):c.2452-84A>G rs2974835
NM_021098.3(CACNA1H):c.2462T>C (p.Leu821Pro) rs2141288117
NM_021098.3(CACNA1H):c.2474T>G (p.Leu825Arg)
NM_021098.3(CACNA1H):c.2544C>T (p.Gly848=) rs28365123
NM_021098.3(CACNA1H):c.2573A>T (p.Asn858Ile) rs1387448449
NM_021098.3(CACNA1H):c.2604-219A>G rs8049080
NM_021098.3(CACNA1H):c.2604-88C>A rs117673391
NM_021098.3(CACNA1H):c.2780T>C (p.Phe927Ser) rs2141298140
NM_021098.3(CACNA1H):c.2876C>T (p.Ser959Phe) rs1390579046
NM_021098.3(CACNA1H):c.299+20_299+40del rs147910127
NM_021098.3(CACNA1H):c.299+80A>G rs112034409
NM_021098.3(CACNA1H):c.300-95G>A rs9936834
NM_021098.3(CACNA1H):c.3004G>A (p.Gly1002Ser) rs2141308474
NM_021098.3(CACNA1H):c.3004G>C (p.Gly1002Arg)
NM_021098.3(CACNA1H):c.3086C>G (p.Thr1029Arg)
NM_021098.3(CACNA1H):c.3090C>A (p.Asp1030Glu)
NM_021098.3(CACNA1H):c.3155-64T>C
NM_021098.3(CACNA1H):c.3248C>T (p.Thr1083Met) rs1064793076
NM_021098.3(CACNA1H):c.3281T>C (p.Leu1094Pro)
NM_021098.3(CACNA1H):c.3343C>G (p.Leu1115Val)
NM_021098.3(CACNA1H):c.3362C>G (p.Pro1121Arg) rs200832286
NM_021098.3(CACNA1H):c.3422_3442dup (p.Arg1141_Ser1147dup) rs746597383
NM_021098.3(CACNA1H):c.3454C>G (p.Pro1152Ala) rs2141326397
NM_021098.3(CACNA1H):c.3477G>C (p.Gln1159His)
NM_021098.3(CACNA1H):c.3536C>G (p.Ala1179Gly)
NM_021098.3(CACNA1H):c.3598G>A (p.Asp1200Asn)
NM_021098.3(CACNA1H):c.3655G>A (p.Gly1219Arg) rs746322724
NM_021098.3(CACNA1H):c.3744+190C>A rs8050803
NM_021098.3(CACNA1H):c.3744+197C>T
NM_021098.3(CACNA1H):c.3745-289G>A rs8049748
NM_021098.3(CACNA1H):c.382T>G (p.Cys128Gly) rs1057523118
NM_021098.3(CACNA1H):c.3836C>T (p.Pro1279Leu)
NM_021098.3(CACNA1H):c.3846-20A>C rs773276537
NM_021098.3(CACNA1H):c.3846-24T>C rs768109411
NM_021098.3(CACNA1H):c.384C>G (p.Cys128Trp)
NM_021098.3(CACNA1H):c.4028T>C (p.Met1343Thr) rs1377984024
NM_021098.3(CACNA1H):c.4148T>C (p.Met1383Thr)
NM_021098.3(CACNA1H):c.4224-82C>A rs72552038
NM_021098.3(CACNA1H):c.4369T>C (p.Tyr1457His)
NM_021098.3(CACNA1H):c.4390A>T (p.Thr1464Ser) rs1969448609
NM_021098.3(CACNA1H):c.4484T>A (p.Met1495Lys) rs1131691843
NM_021098.3(CACNA1H):c.4485G>A (p.Met1495Ile) rs2141350000
NM_021098.3(CACNA1H):c.4525A>C (p.Ile1509Leu)
NM_021098.3(CACNA1H):c.4528_4536delinsCTT (p.Met1510_Asp1512delinsLeu)
NM_021098.3(CACNA1H):c.4586C>G (p.Pro1529Arg)
NM_021098.3(CACNA1H):c.4651G>T (p.Val1551Leu) rs369045626
NM_021098.3(CACNA1H):c.4707G>C (p.Glu1569Asp)
NM_021098.3(CACNA1H):c.4742T>G (p.Leu1581Arg) rs763158238
NM_021098.3(CACNA1H):c.4754G>T (p.Arg1585Leu) rs774569737
NM_021098.3(CACNA1H):c.4759+172C>A rs111255867
NM_021098.3(CACNA1H):c.4778-275G>T rs118038000
NM_021098.3(CACNA1H):c.4778-311A>G rs9328916
NM_021098.3(CACNA1H):c.4780_4781delinsTT (p.Ala1594Phe) rs1555518356
NM_021098.3(CACNA1H):c.4789C>G (p.Arg1597Gly)
NM_021098.3(CACNA1H):c.4799A>G (p.Tyr1600Cys) rs1969738079
NM_021098.3(CACNA1H):c.4842C>A (p.Cys1614Ter) rs1427804663
NM_021098.3(CACNA1H):c.4855C>T (p.Leu1619Phe) rs1064796794
NM_021098.3(CACNA1H):c.486G>T (p.Gly162=) rs1057521046
NM_021098.3(CACNA1H):c.4922A>G (p.Gln1641Arg) rs1596466547
NM_021098.3(CACNA1H):c.5024G>T (p.Arg1675Leu)
NM_021098.3(CACNA1H):c.5080A>G (p.Met1694Val) rs2141376108
NM_021098.3(CACNA1H):c.5230C>G (p.Gln1744Glu) rs1435317657
NM_021098.3(CACNA1H):c.5249G>A (p.Gly1750Glu)
NM_021098.3(CACNA1H):c.5264T>C (p.Leu1755Pro)
NM_021098.3(CACNA1H):c.5270T>C (p.Met1757Thr)
NM_021098.3(CACNA1H):c.5282T>C (p.Phe1761Ser)
NM_021098.3(CACNA1H):c.5330G>T (p.Ser1777Ile) rs1439949443
NM_021098.3(CACNA1H):c.5408G>A (p.Arg1803His)
NM_021098.3(CACNA1H):c.5446-9C>A rs1596475466
NM_021098.3(CACNA1H):c.546-2delinsCG
NM_021098.3(CACNA1H):c.5573T>C (p.Val1858Ala)
NM_021098.3(CACNA1H):c.5579T>C (p.Met1860Thr)
NM_021098.3(CACNA1H):c.5612G>T (p.Arg1871Leu) rs58124832
NM_021098.3(CACNA1H):c.5670T>A (p.Ser1890Arg) rs1555520259
NM_021098.3(CACNA1H):c.577G>A (p.Val193Met) rs778637721
NM_021098.3(CACNA1H):c.6048+17del rs3833845
NM_021098.3(CACNA1H):c.6049-189_6049-188del rs3833847
NM_021098.3(CACNA1H):c.6209G>A (p.Arg2070His) rs777897759
NM_021098.3(CACNA1H):c.6299A>T (p.Glu2100Val) rs2141408068
NM_021098.3(CACNA1H):c.6300G>T (p.Glu2100Asp)
NM_021098.3(CACNA1H):c.6380G>T (p.Gly2127Val) rs769490814
NM_021098.3(CACNA1H):c.643+188G>A rs3738077
NM_021098.3(CACNA1H):c.643+247A>G rs1005454
NM_021098.3(CACNA1H):c.644-241G>C rs34569984
NM_021098.3(CACNA1H):c.644-56C>T rs35181617
NM_021098.3(CACNA1H):c.6528G>T (p.Glu2176Asp)
NM_021098.3(CACNA1H):c.6547A>G (p.Arg2183Gly)
NM_021098.3(CACNA1H):c.6548G>A (p.Arg2183Lys)
NM_021098.3(CACNA1H):c.6570del (p.Cys2191fs) rs760298114
NM_021098.3(CACNA1H):c.6571T>C (p.Cys2191Arg) rs1970398720
NM_021098.3(CACNA1H):c.6578C>G (p.Ser2193Trp)
NM_021098.3(CACNA1H):c.6679C>T (p.Pro2227Ser)
NM_021098.3(CACNA1H):c.6713C>G (p.Ser2238Ter) rs774045741
NM_021098.3(CACNA1H):c.6721G>C (p.Gly2241Arg) rs200606995
NM_021098.3(CACNA1H):c.6727dup (p.Asp2243fs) rs753624103
NM_021098.3(CACNA1H):c.6851del (p.Gly2284fs)
NM_021098.3(CACNA1H):c.697G>C (p.Val233Leu) rs1555510028
NM_021098.3(CACNA1H):c.6995C>A (p.Pro2332His)
NM_021098.3(CACNA1H):c.703CTG[1] (p.Leu236del)
NM_021098.3(CACNA1H):c.742G>A (p.Gly248Ser) rs1967303599
NM_021098.3(CACNA1H):c.750G>C (p.Gln250His) rs1414057702
NM_021098.3(CACNA1H):c.803+178A>C rs190211190
NM_021098.3(CACNA1H):c.803+187C>G rs183628037
NM_021098.3(CACNA1H):c.804-198C>T
NM_021098.3(CACNA1H):c.804-50C>T rs72552031
NM_021098.3(CACNA1H):c.859A>G (p.Asn287Asp) rs753361068
NM_021098.3(CACNA1H):c.877T>C (p.Ser293Pro) rs2141242222
NM_021098.3(CACNA1H):c.888C>A (p.Asp296Glu)

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