ClinVar Miner

List of variants in gene DNAH5 studied for not provided

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Gene type:
ClinVar version:
Total variants: 163
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HGVS dbSNP
GRCh37/hg19 5p15.2(chr5:13889938-13919498)x1
NC_000005.10:g.13751220A>C
NM_001369.2(DNAH5):c.10191A>G (p.Lys3397=) rs1250972452
NM_001369.2(DNAH5):c.10434T>C (p.Asp3478=) rs758443484
NM_001369.2(DNAH5):c.10437A>G (p.Ala3479=) rs139881808
NM_001369.2(DNAH5):c.10440G>A (p.Glu3480=) rs1485742988
NM_001369.2(DNAH5):c.10441C>T (p.Arg3481Ter) rs886039500
NM_001369.2(DNAH5):c.10443A>T (p.Arg3481=) rs1554035381
NM_001369.2(DNAH5):c.10616G>A (p.Arg3539His) rs769458738
NM_001369.2(DNAH5):c.10784C>T (p.Thr3595Met) rs886043929
NM_001369.2(DNAH5):c.10785G>A (p.Thr3595=)
NM_001369.2(DNAH5):c.10815del (p.Pro3606fs) rs397515540
NM_001369.2(DNAH5):c.10872+9T>G rs1580066952
NM_001369.2(DNAH5):c.11017T>C (p.Ser3673Pro) rs1250778700
NM_001369.2(DNAH5):c.11018C>T (p.Ser3673Phe) rs1554034235
NM_001369.2(DNAH5):c.11140A>G (p.Ile3714Val) rs143185806
NM_001369.2(DNAH5):c.1121T>C (p.Ile374Thr) rs147499872
NM_001369.2(DNAH5):c.11385G>A (p.Val3795=) rs921373580
NM_001369.2(DNAH5):c.11456-3C>T rs368946226
NM_001369.2(DNAH5):c.11570+9G>C rs1206430080
NM_001369.2(DNAH5):c.11574T>C (p.Ser3858=) rs188088000
NM_001369.2(DNAH5):c.11583C>A (p.Ser3861Arg) rs576096758
NM_001369.2(DNAH5):c.11586G>C (p.Pro3862=) rs755874851
NM_001369.2(DNAH5):c.11586G>T (p.Pro3862=) rs755874851
NM_001369.2(DNAH5):c.1182A>T (p.Thr394=) rs1580874077
NM_001369.2(DNAH5):c.11940G>A (p.Glu3980=) rs377018163
NM_001369.2(DNAH5):c.1198-8A>T rs1580867586
NM_001369.2(DNAH5):c.1206T>A (p.Asn402Lys) rs140782270
NM_001369.2(DNAH5):c.12072T>C (p.Tyr4024=) rs1375859408
NM_001369.2(DNAH5):c.12265C>T (p.Gln4089Ter) rs1060501456
NM_001369.2(DNAH5):c.12295del (p.Leu4099fs) rs1285287334
NM_001369.2(DNAH5):c.12384C>T (p.Leu4128=) rs772828833
NM_001369.2(DNAH5):c.12523G>A (p.Val4175Met) rs148123430
NM_001369.2(DNAH5):c.12615G>A (p.Gly4205=)
NM_001369.2(DNAH5):c.12655G>A (p.Ala4219Thr) rs794727887
NM_001369.2(DNAH5):c.12720C>T (p.Thr4240=) rs756222017
NM_001369.2(DNAH5):c.12842T>C (p.Phe4281Ser) rs886059964
NM_001369.2(DNAH5):c.12900G>A (p.Gln4300=) rs1313735230
NM_001369.2(DNAH5):c.13038T>A (p.Gly4346=)
NM_001369.2(DNAH5):c.13070C>G (p.Ala4357Gly) rs368776967
NM_001369.2(DNAH5):c.13125+8G>A rs1579871092
NM_001369.2(DNAH5):c.13194C>T (p.Asp4398=)
NM_001369.2(DNAH5):c.13194_13197del (p.Asp4398fs) rs727502971
NM_001369.2(DNAH5):c.1332C>T (p.Leu444=) rs375771650
NM_001369.2(DNAH5):c.13338+16C>T rs115271897
NM_001369.2(DNAH5):c.13413G>A (p.Trp4471Ter)
NM_001369.2(DNAH5):c.1371A>G (p.Pro457=) rs750936789
NM_001369.2(DNAH5):c.13753C>A (p.Pro4585Thr) rs760428177
NM_001369.2(DNAH5):c.13778C>T (p.Thr4593Met) rs142036266
NM_001369.2(DNAH5):c.1431C>T (p.His477=) rs1028207982
NM_001369.2(DNAH5):c.1536+8A>G rs1580862932
NM_001369.2(DNAH5):c.1563G>A (p.Lys521=) rs1580853552
NM_001369.2(DNAH5):c.1585C>T (p.Arg529Trp) rs200452908
NM_001369.2(DNAH5):c.159C>G (p.Thr53=) rs773322142
NM_001369.2(DNAH5):c.192+7T>A rs1210630945
NM_001369.2(DNAH5):c.1955G>A (p.Ser652Asn) rs749126116
NM_001369.2(DNAH5):c.2028C>T (p.Leu676=) rs1358924801
NM_001369.2(DNAH5):c.2053-7C>T rs1325993261
NM_001369.2(DNAH5):c.2211C>T (p.Ser737=) rs878854455
NM_001369.2(DNAH5):c.2224C>T (p.Arg742Ter) rs776686983
NM_001369.2(DNAH5):c.2306C>T (p.Ala769Val) rs200101760
NM_001369.2(DNAH5):c.2431+5G>A rs369244905
NM_001369.2(DNAH5):c.2578-10_2578-7del rs71600031
NM_001369.2(DNAH5):c.2578-25_2578-13dup rs71600031
NM_001369.2(DNAH5):c.2578-25_2578-17dup rs71600031
NM_001369.2(DNAH5):c.2578-25_2578-19dup rs71600031
NM_001369.2(DNAH5):c.2578-7del rs71600031
NM_001369.2(DNAH5):c.2578-8_2578-7del rs71600031
NM_001369.2(DNAH5):c.2578-9_2578-7del rs71600031
NM_001369.2(DNAH5):c.2703A>T (p.Ile901=) rs1580744784
NM_001369.2(DNAH5):c.271G>T (p.Glu91Ter) rs750649191
NM_001369.2(DNAH5):c.2931A>C (p.Thr977=) rs1469143674
NM_001369.2(DNAH5):c.297A>T (p.Gly99=) rs794727633
NM_001369.2(DNAH5):c.299G>C (p.Gly100Ala) rs144236383
NM_001369.2(DNAH5):c.3043A>C (p.Thr1015Pro) rs756780275
NM_001369.2(DNAH5):c.3320A>T (p.Tyr1107Phe) rs367913308
NM_001369.2(DNAH5):c.3321T>C (p.Tyr1107=)
NM_001369.2(DNAH5):c.3390C>T (p.Thr1130=) rs1189840629
NM_001369.2(DNAH5):c.3396G>C (p.Lys1132Asn) rs1554087241
NM_001369.2(DNAH5):c.3417T>C (p.Asp1139=) rs376330483
NM_001369.2(DNAH5):c.3465C>T (p.Ala1155=) rs765054817
NM_001369.2(DNAH5):c.3734G>A (p.Arg1245His) rs77939839
NM_001369.2(DNAH5):c.3747C>T (p.Asp1249=) rs1280894186
NM_001369.2(DNAH5):c.3753T>C (p.Asp1251=) rs1060504237
NM_001369.2(DNAH5):c.3775G>A (p.Ala1259Thr) rs112217391
NM_001369.2(DNAH5):c.3777G>C (p.Ala1259=) rs144893234
NM_001369.2(DNAH5):c.3792G>C (p.Arg1264Ser) rs769589158
NM_001369.2(DNAH5):c.3861T>C (p.Tyr1287=) rs764026489
NM_001369.2(DNAH5):c.390C>T (p.Phe130=) rs1580909350
NM_001369.2(DNAH5):c.4023T>C (p.Asp1341=) rs148451151
NM_001369.2(DNAH5):c.4072G>A (p.Gly1358Ser) rs752638332
NM_001369.2(DNAH5):c.4361G>A (p.Arg1454Gln) rs542708170
NM_001369.2(DNAH5):c.438+8G>A rs950201438
NM_001369.2(DNAH5):c.4797-1G>C rs1561449604
NM_001369.2(DNAH5):c.489T>C (p.Ser163=) rs1580903831
NM_001369.2(DNAH5):c.4961G>A (p.Arg1654Gln) rs150868941
NM_001369.2(DNAH5):c.5199G>A (p.Ser1733=) rs142806046
NM_001369.2(DNAH5):c.5272-33dup rs35337694
NM_001369.2(DNAH5):c.5272-9C>T rs555481241
NM_001369.2(DNAH5):c.5281C>G (p.Arg1761Gly) rs148891849
NM_001369.2(DNAH5):c.5396C>T (p.Ser1799Leu) rs727503903
NM_001369.2(DNAH5):c.5503C>T (p.Gln1835Ter) rs761622153
NM_001369.2(DNAH5):c.5622C>T (p.Thr1874=) rs759459740
NM_001369.2(DNAH5):c.5647C>T (p.Arg1883Ter) rs575017579
NM_001369.2(DNAH5):c.5663C>T (p.Thr1888Ile) rs777579934
NM_001369.2(DNAH5):c.574G>A (p.Ala192Thr) rs140700961
NM_001369.2(DNAH5):c.5807C>T (p.Thr1936Ile) rs779609286
NM_001369.2(DNAH5):c.5814G>A (p.Val1938=) rs1580512154
NM_001369.2(DNAH5):c.5853C>T (p.Asp1951=) rs1475309331
NM_001369.2(DNAH5):c.5883-6A>G rs763588282
NM_001369.2(DNAH5):c.5931C>T (p.Ala1977=) rs886043125
NM_001369.2(DNAH5):c.6061+7G>C rs1334799290
NM_001369.2(DNAH5):c.6062-6T>C rs1471313971
NM_001369.2(DNAH5):c.6167A>T (p.Lys2056Ile) rs578128759
NM_001369.2(DNAH5):c.6304C>T (p.Arg2102Cys) rs767019228
NM_001369.2(DNAH5):c.6427G>T (p.Glu2143Ter) rs1064795496
NM_001369.2(DNAH5):c.6551T>C (p.Val2184Ala) rs200805455
NM_001369.2(DNAH5):c.6579+20G>A rs115382993
NM_001369.2(DNAH5):c.661G>A (p.Val221Met) rs1085307485
NM_001369.2(DNAH5):c.6672A>G (p.Ala2224=) rs1060504236
NM_001369.2(DNAH5):c.6688-1G>T rs1057520697
NM_001369.2(DNAH5):c.6703T>G (p.Leu2235Val) rs115109673
NM_001369.2(DNAH5):c.6752C>T (p.Thr2251Met) rs146392250
NM_001369.2(DNAH5):c.6919G>A (p.Val2307Ile) rs74604638
NM_001369.2(DNAH5):c.7167C>T (p.Thr2389=) rs377435331
NM_001369.2(DNAH5):c.7212T>C (p.Asp2404=) rs876657454
NM_001369.2(DNAH5):c.7231-9A>C rs945527843
NM_001369.2(DNAH5):c.7408-4T>C rs1388754784
NM_001369.2(DNAH5):c.741T>C (p.Pro247=) rs374902528
NM_001369.2(DNAH5):c.7444C>T (p.Arg2482Trp) rs1355327016
NM_001369.2(DNAH5):c.7531C>T (p.Arg2511Trp) rs564040169
NM_001369.2(DNAH5):c.7560G>T (p.Pro2520=) rs762130845
NM_001369.2(DNAH5):c.7569G>A (p.Gly2523=) rs986872979
NM_001369.2(DNAH5):c.7581C>T (p.Thr2527=) rs1047174806
NM_001369.2(DNAH5):c.7998G>T (p.Glu2666Asp) rs148720124
NM_001369.2(DNAH5):c.8002G>A (p.Gly2668Arg) rs147236883
NM_001369.2(DNAH5):c.8011-4G>A rs1331845041
NM_001369.2(DNAH5):c.8030G>A (p.Arg2677Gln) rs886043448
NM_001369.2(DNAH5):c.8388T>C (p.Asp2796=) rs1580265726
NM_001369.2(DNAH5):c.8404C>T (p.Gln2802Ter) rs1193586811
NM_001369.2(DNAH5):c.8685A>G (p.Lys2895=) rs553405333
NM_001369.2(DNAH5):c.8731A>G (p.Asn2911Asp) rs142852982
NM_001369.2(DNAH5):c.8845C>G (p.Gln2949Glu) rs147688221
NM_001369.2(DNAH5):c.8898G>T (p.Thr2966=) rs111995400
NM_001369.2(DNAH5):c.8925C>T (p.Tyr2975=) rs755490391
NM_001369.2(DNAH5):c.9111T>C (p.Ser3037=) rs765029802
NM_001369.2(DNAH5):c.9171A>G (p.Lys3057=) rs543154987
NM_001369.2(DNAH5):c.9203A>G (p.Glu3068Gly) rs141571121
NM_001369.2(DNAH5):c.9210G>C (p.Leu3070=) rs1580176858
NM_001369.2(DNAH5):c.9229C>T (p.Arg3077Trp) rs1426289211
NM_001369.2(DNAH5):c.9449del (p.Gly3150fs) rs727504802
NM_001369.2(DNAH5):c.9605+7G>A rs1433603838
NM_001369.2(DNAH5):c.9810G>A (p.Val3270=) rs779435246
NM_001369.2(DNAH5):c.9825A>G (p.Lys3275=) rs1580139912
NM_001369.2(DNAH5):c.986A>C (p.Glu329Ala) rs483353127
NM_001369.2(DNAH5):c.9879G>A (p.Glu3293=) rs764348016
NM_001369.2(DNAH5):c.9896A>G (p.Gln3299Arg) rs727503902
NM_001369.2(DNAH5):c.9898-6C>T rs1554039568
NM_001369.2(DNAH5):c.9912G>C (p.Ser3304=) rs188218914
NM_001369.3(DNAH5):c.12604G>A (p.Gly4202Ser)
NM_001369.3(DNAH5):c.13630G>A (p.Gly4544Ser)
NM_001369.3(DNAH5):c.1639C>T (p.Leu547Phe)
NM_001369.3(DNAH5):c.4747G>A (p.Ala1583Thr)

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