ClinVar Miner

List of variants reported as likely benign for Primary ciliary dyskinesia 6 by Labcorp Genetics (formerly Invitae), Labcorp

Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 99
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HGVS dbSNP gnomAD frequency
NM_016616.5(NME8):c.1405A>C (p.Ile469Leu) rs147791304 0.00242
NM_016616.5(NME8):c.388-3T>C rs141307270 0.00205
NM_016616.5(NME8):c.610A>G (p.Ile204Val) rs146777129 0.00094
NM_016616.5(NME8):c.84C>T (p.Gly28=) rs376117068 0.00032
NM_016616.5(NME8):c.1090G>T (p.Glu364Ter) rs150497712 0.00021
NM_016616.5(NME8):c.1139+14T>A rs367945544 0.00021
NM_016616.5(NME8):c.454C>T (p.Gln152Ter) rs199901385 0.00020
NM_016616.5(NME8):c.226C>A (p.Gln76Lys) rs142570057 0.00019
NM_016616.5(NME8):c.440C>T (p.Pro147Leu) rs143559107 0.00016
NM_016616.5(NME8):c.264T>C (p.Phe88=) rs547826686 0.00015
NM_016616.5(NME8):c.1630G>A (p.Ala544Thr) rs140494494 0.00014
NM_016616.5(NME8):c.723A>G (p.Glu241=) rs140957789 0.00012
NM_016616.5(NME8):c.271-15T>G rs370705490 0.00011
NM_016616.5(NME8):c.285C>T (p.Ile95=) rs201295247 0.00011
NM_016616.5(NME8):c.486G>A (p.Pro162=) rs199713986 0.00010
NM_016616.5(NME8):c.529-8A>C rs374765720 0.00009
NM_016616.5(NME8):c.1062G>A (p.Ser354=) rs148479667 0.00006
NM_016616.5(NME8):c.224T>C (p.Leu75Ser) rs541494396 0.00006
NM_016616.5(NME8):c.312G>A (p.Pro104=) rs536359204 0.00006
NM_016616.5(NME8):c.915C>T (p.Pro305=) rs146004225 0.00006
NM_016616.5(NME8):c.967C>A (p.Arg323=) rs374455803 0.00006
NM_016616.5(NME8):c.1467T>C (p.Thr489=) rs141799366 0.00005
NM_016616.5(NME8):c.1644C>G (p.Ser548=) rs765674664 0.00005
NM_016616.5(NME8):c.1710C>T (p.Asn570=) rs190521566 0.00005
NM_016616.5(NME8):c.271-4A>G rs368506712 0.00005
NM_016616.5(NME8):c.92-19A>G rs777610363 0.00005
NM_016616.5(NME8):c.144A>G (p.Leu48=) rs199848335 0.00004
NM_016616.5(NME8):c.621+8A>T rs748586004 0.00004
NM_016616.5(NME8):c.633A>G (p.Glu211=) rs200050894 0.00004
NM_016616.5(NME8):c.1140-9T>G rs765103564 0.00003
NM_016616.5(NME8):c.1247+15A>G rs555931824 0.00003
NM_016616.5(NME8):c.36A>G (p.Thr12=) rs776071598 0.00003
NM_016616.5(NME8):c.57G>A (p.Leu19=) rs752092011 0.00003
NM_016616.5(NME8):c.738C>T (p.Thr246=) rs201321298 0.00003
NM_016616.5(NME8):c.1302C>T (p.Ser434=) rs369550926 0.00002
NM_016616.5(NME8):c.258T>C (p.Phe86=) rs775554270 0.00002
NM_016616.5(NME8):c.454+17C>T rs1455331675 0.00002
NM_016616.5(NME8):c.51A>G (p.Gln17=) rs764519450 0.00002
NM_016616.5(NME8):c.720C>T (p.Thr240=) rs375200127 0.00002
NM_016616.5(NME8):c.882T>C (p.Ala294=) rs766918975 0.00002
NM_016616.5(NME8):c.91+16G>A rs746669564 0.00002
NM_016616.5(NME8):c.1140-12C>G rs1562839603 0.00001
NM_016616.5(NME8):c.1173C>T (p.Asp391=) rs769139557 0.00001
NM_016616.5(NME8):c.1188C>T (p.Tyr396=) rs1001146715 0.00001
NM_016616.5(NME8):c.1247+10A>T rs776719324 0.00001
NM_016616.5(NME8):c.1323A>G (p.Glu441=) rs775488207 0.00001
NM_016616.5(NME8):c.1473G>A (p.Glu491=) rs777800450 0.00001
NM_016616.5(NME8):c.171C>T (p.Asn57=) rs180763598 0.00001
NM_016616.5(NME8):c.24C>G (p.Val8=) rs765828426 0.00001
NM_016616.5(NME8):c.270+10T>C rs981830782 0.00001
NM_016616.5(NME8):c.271-19G>C rs1486411712 0.00001
NM_016616.5(NME8):c.271-5T>C rs1474924619 0.00001
NM_016616.5(NME8):c.33+15T>G rs746181533 0.00001
NM_016616.5(NME8):c.387+7C>A rs751058129 0.00001
NM_016616.5(NME8):c.459A>G (p.Glu153=) rs747826248 0.00001
NM_016616.5(NME8):c.513A>G (p.Leu171=) rs1299164912 0.00001
NM_016616.5(NME8):c.528+19C>T rs1226435492 0.00001
NM_016616.5(NME8):c.549T>C (p.Ile183=) rs1464952855 0.00001
NM_016616.5(NME8):c.603T>C (p.Tyr201=) rs763951968 0.00001
NM_016616.5(NME8):c.759G>A (p.Glu253=) rs895815053 0.00001
NM_016616.5(NME8):c.92-9A>G rs113388202 0.00001
NM_016616.5(NME8):c.995-4T>G rs1785008096 0.00001
NM_016616.5(NME8):c.1005G>A (p.Leu335=) rs2483657687
NM_016616.5(NME8):c.1059A>G (p.Leu353=) rs2131967257
NM_016616.5(NME8):c.1248-18C>T
NM_016616.5(NME8):c.1291T>C (p.Leu431=) rs758921186
NM_016616.5(NME8):c.1299C>T (p.Gly433=) rs1785074828
NM_016616.5(NME8):c.1438C>T (p.Leu480=)
NM_016616.5(NME8):c.1600C>T (p.Arg534Ter) rs142525551
NM_016616.5(NME8):c.1611C>A (p.Gly537=) rs2483676397
NM_016616.5(NME8):c.1737T>C (p.Asn579=) rs763234222
NM_016616.5(NME8):c.1743C>A (p.Leu581=) rs764326102
NM_016616.5(NME8):c.1743C>T (p.Leu581=) rs764326102
NM_016616.5(NME8):c.1761A>G (p.Glu587=) rs750372750
NM_016616.5(NME8):c.240T>C (p.Asp80=) rs1372349900
NM_016616.5(NME8):c.267T>C (p.Ser89=) rs2483615142
NM_016616.5(NME8):c.315T>G (p.Leu105=) rs2131947110
NM_016616.5(NME8):c.33+8T>G rs1554360728
NM_016616.5(NME8):c.330T>G (p.Val110=) rs2483621473
NM_016616.5(NME8):c.34-10C>T
NM_016616.5(NME8):c.34-15C>T
NM_016616.5(NME8):c.34-8C>T rs2131937494
NM_016616.5(NME8):c.342C>T (p.Ile114=) rs199734697
NM_016616.5(NME8):c.387+16A>C rs1456014799
NM_016616.5(NME8):c.454+14_454+15insGAA rs1784629395
NM_016616.5(NME8):c.454+15T>C rs1382583068
NM_016616.5(NME8):c.454+16T>C rs1361986018
NM_016616.5(NME8):c.529-15A>G rs2483627614
NM_016616.5(NME8):c.621+11T>G rs2483628120
NM_016616.5(NME8):c.622-18del
NM_016616.5(NME8):c.622-9A>C
NM_016616.5(NME8):c.630C>T (p.Phe210=)
NM_016616.5(NME8):c.654A>G (p.Thr218=) rs1583632294
NM_016616.5(NME8):c.726A>G (p.Pro242=) rs2483631963
NM_016616.5(NME8):c.735C>T (p.Asp245=) rs975118756
NM_016616.5(NME8):c.768T>A (p.Pro256=)
NM_016616.5(NME8):c.786T>C (p.Val262=)
NM_016616.5(NME8):c.819-20T>C rs1562835914
NM_016616.5(NME8):c.91+11T>A rs2483605148

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