ClinVar Miner

List of variants in gene RSPH4A reported as uncertain significance for Primary ciliary dyskinesia

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 167
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001010892.3(RSPH4A):c.675G>T (p.Ser225=) rs79327004 0.00290
NM_001010892.3(RSPH4A):c.584C>G (p.Pro195Arg) rs141226759 0.00040
NM_001010892.3(RSPH4A):c.1001C>A (p.Thr334Lys) rs149463940 0.00033
NM_001010892.3(RSPH4A):c.1340T>C (p.Val447Ala) rs371062144 0.00018
NM_001010892.3(RSPH4A):c.242C>T (p.Ser81Leu) rs371869815 0.00016
NM_001010892.3(RSPH4A):c.1286A>G (p.Tyr429Cys) rs140079844 0.00014
NM_001010892.3(RSPH4A):c.1708G>C (p.Glu570Gln) rs147003118 0.00014
NM_001010892.3(RSPH4A):c.1060C>T (p.Arg354Cys) rs143931549 0.00009
NM_001010892.3(RSPH4A):c.1180G>A (p.Gly394Arg) rs146363206 0.00009
NM_001010892.3(RSPH4A):c.1334C>T (p.Pro445Leu) rs139677155 0.00009
NM_001010892.3(RSPH4A):c.1828C>T (p.Arg610Trp) rs149268378 0.00009
NM_001010892.3(RSPH4A):c.1274G>A (p.Gly425Asp) rs371882096 0.00008
NM_001010892.3(RSPH4A):c.1970A>G (p.Tyr657Cys) rs1230428971 0.00007
NM_001010892.3(RSPH4A):c.2021A>G (p.Glu674Gly) rs368369580 0.00007
NM_001010892.3(RSPH4A):c.1748T>C (p.Ile583Thr) rs141807210 0.00006
NM_001010892.3(RSPH4A):c.268C>A (p.Pro90Thr) rs530756069 0.00006
NM_001010892.3(RSPH4A):c.397G>A (p.Asp133Asn) rs976414886 0.00006
NM_001010892.3(RSPH4A):c.814C>G (p.Gln272Glu) rs752249790 0.00006
NM_001010892.3(RSPH4A):c.1247C>T (p.Ala416Val) rs61738662 0.00005
NM_001010892.3(RSPH4A):c.413C>A (p.Thr138Asn) rs545486771 0.00005
NM_001010892.3(RSPH4A):c.650A>C (p.Tyr217Ser) rs762313827 0.00005
NM_001010892.3(RSPH4A):c.902A>C (p.Gln301Pro) rs755128358 0.00005
NM_001010892.3(RSPH4A):c.1006C>T (p.Arg336Cys) rs746613781 0.00004
NM_001010892.3(RSPH4A):c.1193C>T (p.Ala398Val) rs576716296 0.00004
NM_001010892.3(RSPH4A):c.1333C>T (p.Pro445Ser) rs146636625 0.00004
NM_001010892.3(RSPH4A):c.1814C>A (p.Pro605His) rs775186734 0.00004
NM_001010892.3(RSPH4A):c.25C>A (p.Gln9Lys) rs139499008 0.00004
NM_001010892.3(RSPH4A):c.35A>T (p.Glu12Val) rs377656819 0.00004
NM_001010892.3(RSPH4A):c.596G>T (p.Gly199Val) rs143264253 0.00004
NM_001010892.3(RSPH4A):c.1165G>A (p.Glu389Lys) rs368398120 0.00003
NM_001010892.3(RSPH4A):c.1250T>A (p.Ile417Lys) rs780773871 0.00003
NM_001010892.3(RSPH4A):c.1799A>C (p.Glu600Ala) rs1350567163 0.00003
NM_001010892.3(RSPH4A):c.1811T>C (p.Ile604Thr) rs1031372447 0.00003
NM_001010892.3(RSPH4A):c.394T>A (p.Ser132Thr) rs374708076 0.00003
NM_001010892.3(RSPH4A):c.782T>C (p.Met261Thr) rs202102790 0.00003
NM_001010892.3(RSPH4A):c.1121G>A (p.Arg374His) rs141217974 0.00002
NM_001010892.3(RSPH4A):c.1378A>C (p.Lys460Gln) rs1366911279 0.00002
NM_001010892.3(RSPH4A):c.1436A>G (p.Asn479Ser) rs766529254 0.00002
NM_001010892.3(RSPH4A):c.1547C>T (p.Ala516Val) rs771315690 0.00002
NM_001010892.3(RSPH4A):c.1877C>G (p.Ser626Cys) rs920198802 0.00002
NM_001010892.3(RSPH4A):c.1928A>T (p.Asn643Ile) rs779796065 0.00002
NM_001010892.3(RSPH4A):c.1969T>C (p.Tyr657His) rs769766758 0.00002
NM_001010892.3(RSPH4A):c.1976C>A (p.Pro659His) rs372634959 0.00002
NM_001010892.3(RSPH4A):c.2127A>C (p.Glu709Asp) rs1215996303 0.00002
NM_001010892.3(RSPH4A):c.2135A>G (p.Glu712Gly) rs765412618 0.00002
NM_001010892.3(RSPH4A):c.259C>T (p.Pro87Ser) rs767490154 0.00002
NM_001010892.3(RSPH4A):c.560A>T (p.Asn187Ile) rs758078631 0.00002
NM_001010892.3(RSPH4A):c.806A>C (p.Asp269Ala) rs759084740 0.00002
NM_001010892.3(RSPH4A):c.1021C>T (p.Leu341Phe) rs1417495937 0.00001
NM_001010892.3(RSPH4A):c.1061G>A (p.Arg354His) rs367712020 0.00001
NM_001010892.3(RSPH4A):c.1089A>C (p.Glu363Asp) rs758997589 0.00001
NM_001010892.3(RSPH4A):c.1111G>A (p.Val371Met) rs1379993014 0.00001
NM_001010892.3(RSPH4A):c.1120C>T (p.Arg374Cys) rs768193419 0.00001
NM_001010892.3(RSPH4A):c.1204G>A (p.Glu402Lys) rs945197853 0.00001
NM_001010892.3(RSPH4A):c.1241C>T (p.Pro414Leu) rs1394282681 0.00001
NM_001010892.3(RSPH4A):c.1246G>T (p.Ala416Ser) rs765312681 0.00001
NM_001010892.3(RSPH4A):c.1361T>C (p.Ile454Thr) rs752047678 0.00001
NM_001010892.3(RSPH4A):c.1379A>G (p.Lys460Arg) rs1436491672 0.00001
NM_001010892.3(RSPH4A):c.1394G>A (p.Arg465Gln) rs777456038 0.00001
NM_001010892.3(RSPH4A):c.1410C>G (p.Ile470Met) rs775326896 0.00001
NM_001010892.3(RSPH4A):c.1478C>A (p.Ala493Glu) rs753449428 0.00001
NM_001010892.3(RSPH4A):c.1531G>A (p.Glu511Lys) rs1221446542 0.00001
NM_001010892.3(RSPH4A):c.1628A>G (p.Asn543Ser) rs147813674 0.00001
NM_001010892.3(RSPH4A):c.1666C>T (p.Arg556Cys) rs777653223 0.00001
NM_001010892.3(RSPH4A):c.1705G>A (p.Glu569Lys) rs1391501802 0.00001
NM_001010892.3(RSPH4A):c.1806G>T (p.Gln602His) rs1775775547 0.00001
NM_001010892.3(RSPH4A):c.1829G>A (p.Arg610Gln) rs751741926 0.00001
NM_001010892.3(RSPH4A):c.1861A>G (p.Ile621Val) rs748272434 0.00001
NM_001010892.3(RSPH4A):c.1912G>A (p.Gly638Ser) rs370338820 0.00001
NM_001010892.3(RSPH4A):c.1917-3T>C rs757886950 0.00001
NM_001010892.3(RSPH4A):c.1934A>G (p.Tyr645Cys) rs746646378 0.00001
NM_001010892.3(RSPH4A):c.2017C>A (p.Pro673Thr) rs920942886 0.00001
NM_001010892.3(RSPH4A):c.206C>T (p.Thr69Met) rs1398453218 0.00001
NM_001010892.3(RSPH4A):c.2093T>G (p.Leu698Arg) rs780723973 0.00001
NM_001010892.3(RSPH4A):c.260C>T (p.Pro87Leu) rs202006186 0.00001
NM_001010892.3(RSPH4A):c.266A>G (p.Glu89Gly) rs750605299 0.00001
NM_001010892.3(RSPH4A):c.488G>A (p.Arg163Gln) rs1215954352 0.00001
NM_001010892.3(RSPH4A):c.563G>A (p.Ser188Asn) rs376372993 0.00001
NM_001010892.3(RSPH4A):c.694C>A (p.His232Asn) rs373136924 0.00001
NM_001010892.3(RSPH4A):c.727G>A (p.Glu243Lys) rs756946037 0.00001
NM_001010892.3(RSPH4A):c.730C>T (p.Arg244Cys) rs778774449 0.00001
NM_001010892.3(RSPH4A):c.803T>C (p.Phe268Ser) rs774797157 0.00001
NM_001010892.3(RSPH4A):c.832C>T (p.Leu278Phe) rs962694294 0.00001
NM_001010892.3(RSPH4A):c.916G>A (p.Glu306Lys) rs781463706 0.00001
NM_001010892.3(RSPH4A):c.922-11T>G rs758250404 0.00001
NM_001010892.3(RSPH4A):c.943G>A (p.Val315Ile) rs1450524623 0.00001
NM_001010892.3(RSPH4A):c.965T>C (p.Phe322Ser) rs1428425636 0.00001
NM_001010892.3(RSPH4A):c.*38AC[6] rs149281216
NM_001010892.3(RSPH4A):c.1003T>C (p.Tyr335His) rs1490552419
NM_001010892.3(RSPH4A):c.1033A>G (p.Thr345Ala)
NM_001010892.3(RSPH4A):c.1036G>C (p.Asp346His)
NM_001010892.3(RSPH4A):c.1234A>G (p.Lys412Glu)
NM_001010892.3(RSPH4A):c.1237G>A (p.Ala413Thr) rs754023097
NM_001010892.3(RSPH4A):c.1262A>G (p.Glu421Gly)
NM_001010892.3(RSPH4A):c.1264A>G (p.Ser422Gly) rs201899176
NM_001010892.3(RSPH4A):c.1268G>A (p.Arg423Lys) rs2115361973
NM_001010892.3(RSPH4A):c.1268G>C (p.Arg423Thr) rs2115361973
NM_001010892.3(RSPH4A):c.1309C>G (p.Pro437Ala)
NM_001010892.3(RSPH4A):c.1370A>G (p.Lys457Arg) rs1775729139
NM_001010892.3(RSPH4A):c.1376A>T (p.Lys459Met) rs2482803744
NM_001010892.3(RSPH4A):c.1424C>A (p.Pro475His)
NM_001010892.3(RSPH4A):c.1487A>C (p.His496Pro) rs2482804164
NM_001010892.3(RSPH4A):c.1514T>C (p.Phe505Ser) rs565491418
NM_001010892.3(RSPH4A):c.1522G>A (p.Glu508Lys)
NM_001010892.3(RSPH4A):c.1524G>C (p.Glu508Asp)
NM_001010892.3(RSPH4A):c.1527A>T (p.Glu509Asp) rs78666631
NM_001010892.3(RSPH4A):c.1564A>G (p.Ser522Gly) rs977234347
NM_001010892.3(RSPH4A):c.1606G>C (p.Asp536His)
NM_001010892.3(RSPH4A):c.1641T>G (p.His547Gln) rs201238941
NM_001010892.3(RSPH4A):c.1704AGA[2] (p.Glu573del) rs757198203
NM_001010892.3(RSPH4A):c.1716AGA[1] (p.Glu573del) rs370030988
NM_001010892.3(RSPH4A):c.1719A>T (p.Glu573Asp)
NM_001010892.3(RSPH4A):c.1735G>A (p.Asp579Asn)
NM_001010892.3(RSPH4A):c.1741G>A (p.Asp581Asn)
NM_001010892.3(RSPH4A):c.1771C>T (p.Leu591Phe)
NM_001010892.3(RSPH4A):c.1778C>T (p.Thr593Ile)
NM_001010892.3(RSPH4A):c.1814C>G (p.Pro605Arg) rs775186734
NM_001010892.3(RSPH4A):c.1817C>G (p.Pro606Arg) rs138413282
NM_001010892.3(RSPH4A):c.1817C>T (p.Pro606Leu) rs138413282
NM_001010892.3(RSPH4A):c.1829G>C (p.Arg610Pro) rs751741926
NM_001010892.3(RSPH4A):c.1858G>C (p.Ala620Pro) rs1775776988
NM_001010892.3(RSPH4A):c.1867G>A (p.Val623Ile) rs1562392873
NM_001010892.3(RSPH4A):c.1916+2dup
NM_001010892.3(RSPH4A):c.1917-2A>C rs2482814540
NM_001010892.3(RSPH4A):c.1919A>T (p.Lys640Met)
NM_001010892.3(RSPH4A):c.1933T>C (p.Tyr645His) rs1323008510
NM_001010892.3(RSPH4A):c.1936A>G (p.Ile646Val) rs375132889
NM_001010892.3(RSPH4A):c.1976C>T (p.Pro659Leu) rs372634959
NM_001010892.3(RSPH4A):c.2011A>G (p.Ser671Gly) rs2482814903
NM_001010892.3(RSPH4A):c.203A>G (p.Lys68Arg) rs748597085
NM_001010892.3(RSPH4A):c.2055G>C (p.Glu685Asp) rs2115368533
NM_001010892.3(RSPH4A):c.2071G>A (p.Ala691Thr) rs2115368553
NM_001010892.3(RSPH4A):c.2095G>A (p.Ala699Thr) rs372304999
NM_001010892.3(RSPH4A):c.2096C>A (p.Ala699Glu)
NM_001010892.3(RSPH4A):c.2126A>G (p.Glu709Gly)
NM_001010892.3(RSPH4A):c.215G>T (p.Gly72Val) rs2482777442
NM_001010892.3(RSPH4A):c.224C>T (p.Ala75Val) rs553472573
NM_001010892.3(RSPH4A):c.236C>T (p.Thr79Ile) rs1775512553
NM_001010892.3(RSPH4A):c.272C>G (p.Ser91Cys)
NM_001010892.3(RSPH4A):c.281C>T (p.Pro94Leu) rs1397332406
NM_001010892.3(RSPH4A):c.296C>T (p.Pro99Leu) rs1775514576
NM_001010892.3(RSPH4A):c.335_337delinsTAC (p.Arg112_Thr113delinsIlePro) rs2115351269
NM_001010892.3(RSPH4A):c.389A>G (p.Gln130Arg) rs2482778128
NM_001010892.3(RSPH4A):c.418C>A (p.His140Asn) rs753180816
NM_001010892.3(RSPH4A):c.461A>G (p.Gln154Arg) rs1775520006
NM_001010892.3(RSPH4A):c.46G>C (p.Glu16Gln) rs780975506
NM_001010892.3(RSPH4A):c.483T>G (p.Cys161Trp)
NM_001010892.3(RSPH4A):c.495C>A (p.Asp165Glu)
NM_001010892.3(RSPH4A):c.505A>G (p.Asn169Asp) rs2482778654
NM_001010892.3(RSPH4A):c.511G>C (p.Ala171Pro) rs761222226
NM_001010892.3(RSPH4A):c.512C>T (p.Ala171Val) rs2482778678
NM_001010892.3(RSPH4A):c.574T>A (p.Leu192Ile)
NM_001010892.3(RSPH4A):c.586G>A (p.Ala196Thr) rs1436446801
NM_001010892.3(RSPH4A):c.587C>T (p.Ala196Val)
NM_001010892.3(RSPH4A):c.613A>G (p.Ser205Gly) rs1583346221
NM_001010892.3(RSPH4A):c.646G>A (p.Ala216Thr)
NM_001010892.3(RSPH4A):c.646G>T (p.Ala216Ser) rs1390787423
NM_001010892.3(RSPH4A):c.667A>G (p.Ser223Gly) rs1775525747
NM_001010892.3(RSPH4A):c.716A>G (p.Lys239Arg) rs2482791121
NM_001010892.3(RSPH4A):c.764T>C (p.Ile255Thr) rs1775632249
NM_001010892.3(RSPH4A):c.812T>C (p.Leu271Pro)
NM_001010892.3(RSPH4A):c.833T>G (p.Leu278Arg) rs1406041200
NM_001010892.3(RSPH4A):c.842A>G (p.Tyr281Cys) rs1775634033
NM_001010892.3(RSPH4A):c.905A>G (p.Glu302Gly)
NM_001010892.3(RSPH4A):c.931G>A (p.Ala311Thr) rs1330301417
NM_001010892.3(RSPH4A):c.961T>A (p.Tyr321Asn) rs2482802418
NM_001010892.3(RSPH4A):c.983G>A (p.Gly328Asp)

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.