ClinVar Miner

List of variants in gene HYDIN studied for Primary ciliary dyskinesia 5

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 102
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_001270974.2(HYDIN):c.7364C>A (p.Pro2455Gln) rs1798531 0.99691
NM_001270974.2(HYDIN):c.6917A>G (p.Glu2306Gly) rs2502726 0.57263
NM_001270974.2(HYDIN):c.-82A>T rs12449210 0.40012
NM_001270974.2(HYDIN):c.4475C>A (p.Pro1492His) rs78763837 0.38686
NM_001270974.2(HYDIN):c.131G>A (p.Arg44Gln) rs113448164 0.00384
NM_001270974.2(HYDIN):c.9248+17C>G rs150471373 0.00322
NM_001270974.2(HYDIN):c.14857C>T (p.Arg4953Trp) rs79607350 0.00208
NM_001270974.2(HYDIN):c.11638G>A (p.Asp3880Asn) rs199690569 0.00153
NM_001270974.2(HYDIN):c.9223C>T (p.Arg3075Cys) rs199706377 0.00149
NM_001270974.2(HYDIN):c.11047C>T (p.Arg3683Trp) rs200260585 0.00102
NM_001270974.2(HYDIN):c.7450C>T (p.Pro2484Ser) rs201875517 0.00096
NM_001270974.2(HYDIN):c.12586A>G (p.Lys4196Glu) rs374224023 0.00089
NM_001270974.2(HYDIN):c.6557G>C (p.Gly2186Ala) rs191539779 0.00056
NM_001270974.2(HYDIN):c.488G>A (p.Arg163Gln) rs201503269 0.00042
NM_001270974.2(HYDIN):c.14658+5G>A rs192176702 0.00029
NM_001270974.2(HYDIN):c.7483G>A (p.Asp2495Asn) rs368122246 0.00029
NM_001270974.2(HYDIN):c.3786-1G>T rs373501414 0.00003
NM_001270974.2(HYDIN):c.11695G>A (p.Val3899Met) rs1626593 0.00001
NM_001270974.2(HYDIN):c.15092C>T (p.Ser5031Leu) rs763594182 0.00001
NM_001270974.2(HYDIN):c.3175C>T (p.Arg1059Ter) rs916834956 0.00001
NM_001270974.2(HYDIN):c.3187A>G (p.Lys1063Glu) rs1214490303 0.00001
NM_001270974.2(HYDIN):c.6864C>A (p.His2288Gln) rs1336810918 0.00001
NM_001270974.2(HYDIN):c.10012G>T (p.Glu3338Ter)
NM_001270974.2(HYDIN):c.10247T>G (p.Val3416Gly) rs2040667130
NM_001270974.2(HYDIN):c.10319T>C (p.Met3440Thr)
NM_001270974.2(HYDIN):c.10426C>T (p.Arg3476Ter)
NM_001270974.2(HYDIN):c.10441C>T (p.Arg3481Trp)
NM_001270974.2(HYDIN):c.10609C>G (p.Pro3537Ala)
NM_001270974.2(HYDIN):c.10826A>G (p.Tyr3609Cys)
NM_001270974.2(HYDIN):c.10886_10902del (p.Asp3629fs)
NM_001270974.2(HYDIN):c.1095del (p.Phe365fs)
NM_001270974.2(HYDIN):c.11304del (p.Lys3768fs) rs2039914110
NM_001270974.2(HYDIN):c.1147C>T (p.Arg383Ter)
NM_001270974.2(HYDIN):c.11712del (p.Gln3905fs)
NM_001270974.2(HYDIN):c.12076G>A (p.Ala4026Thr)
NM_001270974.2(HYDIN):c.12130-5G>C
NM_001270974.2(HYDIN):c.12144dup (p.Thr4049fs)
NM_001270974.2(HYDIN):c.12270C>G (p.His4090Gln)
NM_001270974.2(HYDIN):c.12444-1G>A
NM_001270974.2(HYDIN):c.12444-3C>G
NM_001270974.2(HYDIN):c.12530del (p.Pro4177fs) rs2038565518
NM_001270974.2(HYDIN):c.12721C>T (p.Gln4241Ter)
NM_001270974.2(HYDIN):c.13117_13123delinsT (p.Thr4373_Glu4375delinsTer)
NM_001270974.2(HYDIN):c.13402-2A>G
NM_001270974.2(HYDIN):c.135+11C>A
NM_001270974.2(HYDIN):c.13603C>T (p.Pro4535Ser) rs267604614
NM_001270974.2(HYDIN):c.13680-3A>G
NM_001270974.2(HYDIN):c.13709del (p.Pro4570fs)
NM_001270974.2(HYDIN):c.14157T>G (p.Tyr4719Ter)
NM_001270974.2(HYDIN):c.1446+1G>A
NM_001270974.2(HYDIN):c.1447-5T>A
NM_001270974.2(HYDIN):c.15037_15048delinsGATGATATA (p.Tyr5013_Pro5016delinsAspAspIle)
NM_001270974.2(HYDIN):c.15062C>A (p.Ala5021Asp)
NM_001270974.2(HYDIN):c.1529del (p.Phe510fs)
NM_001270974.2(HYDIN):c.1670G>C (p.Arg557Thr)
NM_001270974.2(HYDIN):c.1949G>A (p.Arg650His)
NM_001270974.2(HYDIN):c.2051T>C (p.Val684Ala)
NM_001270974.2(HYDIN):c.2065dup (p.Ile689fs) rs2082305577
NM_001270974.2(HYDIN):c.2376+752_2529+9004del
NM_001270974.2(HYDIN):c.2419_2422del (p.Val807fs)
NM_001270974.2(HYDIN):c.2702G>T (p.Gly901Val)
NM_001270974.2(HYDIN):c.283C>T (p.Gln95Ter)
NM_001270974.2(HYDIN):c.3042+139A>G
NM_001270974.2(HYDIN):c.3252dup (p.Val1085fs)
NM_001270974.2(HYDIN):c.3331-5T>G
NM_001270974.2(HYDIN):c.3640A>G (p.Ile1214Val)
NM_001270974.2(HYDIN):c.373A>T (p.Asn125Tyr)
NM_001270974.2(HYDIN):c.3829_3832del (p.Leu1277fs)
NM_001270974.2(HYDIN):c.4445A>T (p.Asn1482Ile)
NM_001270974.2(HYDIN):c.4463A>G (p.Glu1488Gly)
NM_001270974.2(HYDIN):c.4489G>A (p.Asp1497Asn)
NM_001270974.2(HYDIN):c.487C>T (p.Arg163Ter)
NM_001270974.2(HYDIN):c.4888A>T (p.Lys1630Ter)
NM_001270974.2(HYDIN):c.5004del (p.Val1669fs)
NM_001270974.2(HYDIN):c.5152G>A (p.Val1718Met)
NM_001270974.2(HYDIN):c.5620-311_5788+1198del
NM_001270974.2(HYDIN):c.5789-39A>G
NM_001270974.2(HYDIN):c.5855G>A (p.Arg1952Gln)
NM_001270974.2(HYDIN):c.589C>T (p.Arg197Ter)
NM_001270974.2(HYDIN):c.6344_6345dup (p.Ile2116fs) rs373140284
NM_001270974.2(HYDIN):c.6358C>T (p.Arg2120Ter)
NM_001270974.2(HYDIN):c.6669+1G>A
NM_001270974.2(HYDIN):c.7214_7215del (p.Ser2405fs)
NM_001270974.2(HYDIN):c.7318del (p.Asp2440fs)
NM_001270974.2(HYDIN):c.7370T>C (p.Phe2457Ser)
NM_001270974.2(HYDIN):c.7561_7575del (p.Thr2521_Arg2525del)
NM_001270974.2(HYDIN):c.7681_7683del (p.Glu2561del) rs767644077
NM_001270974.2(HYDIN):c.8008C>T (p.Gln2670Ter) rs2143778936
NM_001270974.2(HYDIN):c.8038G>A (p.Gly2680Ser)
NM_001270974.2(HYDIN):c.8093A>T (p.Lys2698Met) rs2143778645
NM_001270974.2(HYDIN):c.8185G>A (p.Gly2729Arg)
NM_001270974.2(HYDIN):c.8380A>G (p.Ile2794Val)
NM_001270974.2(HYDIN):c.8487_8489delinsCA (p.Pro2830fs)
NM_001270974.2(HYDIN):c.8638_8658dup (p.Glu2880_Leu2886dup) rs2143763196
NM_001270974.2(HYDIN):c.8791C>T (p.Arg2931Cys)
NM_001270974.2(HYDIN):c.922A>T (p.Lys308Ter) rs397515414
NM_001270974.2(HYDIN):c.9249-13T>A rs1798454
NM_001270974.2(HYDIN):c.9397C>T (p.Gln3133Ter) rs753701495
NM_001270974.2(HYDIN):c.9418-2A>G
NM_001270974.2(HYDIN):c.950G>A (p.Arg317Gln)
NM_001270974.2(HYDIN):c.9728C>T (p.Ala3243Val)
NM_001270974.2(HYDIN):c.9774+1G>A

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.