ClinVar Miner

List of variants studied for Primary ciliary dyskinesia 7 by Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard

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Total variants: 125
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HGVS dbSNP gnomAD frequency
NM_001277115.2(DNAH11):c.13309C>T (p.Arg4437Cys) rs200466467 0.00027
NM_001277115.2(DNAH11):c.11804C>T (p.Pro3935Leu) rs72658814 0.00025
NM_001277115.2(DNAH11):c.4775G>T (p.Cys1592Phe) rs72657327 0.00021
NM_001277115.2(DNAH11):c.6017C>T (p.Pro2006Leu) rs117803903 0.00017
NM_001277115.2(DNAH11):c.1915C>T (p.Gln639Ter) rs200073714 0.00011
NM_001277115.2(DNAH11):c.4095+2C>T rs532007878 0.00007
NM_001277115.2(DNAH11):c.3470T>G (p.Leu1157Arg) rs117830543 0.00006
NM_001277115.2(DNAH11):c.6547-963G>A rs764374746 0.00006
NM_001277115.2(DNAH11):c.12933+1G>A rs371022970 0.00004
NM_001277115.2(DNAH11):c.13288G>A (p.Gly4430Arg) rs1275074212 0.00004
NM_001277115.2(DNAH11):c.10166-1G>C rs1166330097 0.00003
NM_001277115.2(DNAH11):c.12363C>G (p.Tyr4121Ter) rs121908855 0.00003
NM_001277115.2(DNAH11):c.7787G>A (p.Arg2596Gln) rs780492669 0.00003
NM_001277115.2(DNAH11):c.11929G>T (p.Glu3977Ter) rs72658817 0.00002
NM_001277115.2(DNAH11):c.2965C>T (p.Arg989Ter) rs753010997 0.00002
NM_001277115.2(DNAH11):c.5501G>A (p.Arg1834His) rs750430725 0.00002
NM_001277115.2(DNAH11):c.6527C>T (p.Ala2176Val) rs770279400 0.00002
NM_001277115.2(DNAH11):c.11327T>C (p.Leu3776Pro) rs751761608 0.00001
NM_001277115.2(DNAH11):c.11521C>T (p.Arg3841Ter) rs988794959 0.00001
NM_001277115.2(DNAH11):c.1247C>A (p.Ser416Ter) rs1783826754 0.00001
NM_001277115.2(DNAH11):c.12548C>T (p.Pro4183Leu) rs746934962 0.00001
NM_001277115.2(DNAH11):c.12970C>T (p.Gln4324Ter) rs769756688 0.00001
NM_001277115.2(DNAH11):c.2966G>A (p.Arg989Gln) rs1178187217 0.00001
NM_001277115.2(DNAH11):c.3853-2A>G rs750640740 0.00001
NM_001277115.2(DNAH11):c.4879C>T (p.Arg1627Cys) rs727502967 0.00001
NM_001277115.2(DNAH11):c.5047G>T (p.Glu1683Ter) rs767308949 0.00001
NM_001277115.2(DNAH11):c.5695A>G (p.Lys1899Glu) rs1190944498 0.00001
NM_001277115.2(DNAH11):c.5846G>A (p.Arg1949Gln) rs761919869 0.00001
NM_001277115.2(DNAH11):c.6983+1G>A rs771953930 0.00001
NM_001277115.2(DNAH11):c.7646-1G>T rs1327282449 0.00001
NM_001277115.2(DNAH11):c.7772C>T (p.Pro2591Leu) rs387907258 0.00001
NM_001277115.2(DNAH11):c.8578G>A (p.Gly2860Ser) rs377630570 0.00001
NM_001277115.2(DNAH11):c.8932C>T (p.Gln2978Ter) rs772228900 0.00001
NM_001277115.2(DNAH11):c.9706C>T (p.Arg3236Ter) rs753101269 0.00001
NC_000007.14:g.21894887dup
NM_001277115.2(DNAH11):c.10006G>T (p.Ala3336Ser)
NM_001277115.2(DNAH11):c.10174C>T (p.Arg3392Cys)
NM_001277115.2(DNAH11):c.10285C>A (p.Arg3429Ser)
NM_001277115.2(DNAH11):c.1113C>G (p.Ile371Met) rs764398699
NM_001277115.2(DNAH11):c.11390_11393del (p.Lys3797fs)
NM_001277115.2(DNAH11):c.11662C>T (p.Arg3888Cys)
NM_001277115.2(DNAH11):c.11663G>A (p.Arg3888His) rs72658812
NM_001277115.2(DNAH11):c.122_147del (p.Asn41fs)
NM_001277115.2(DNAH11):c.12507+1G>C
NM_001277115.2(DNAH11):c.12889C>T (p.Arg4297Trp)
NM_001277115.2(DNAH11):c.12980T>C (p.Leu4327Ser)
NM_001277115.2(DNAH11):c.13049+5G>A
NM_001277115.2(DNAH11):c.13059CCT[2] (p.Leu4356del)
NM_001277115.2(DNAH11):c.13061T>A (p.Leu4354His)
NM_001277115.2(DNAH11):c.13288G>C (p.Gly4430Arg) rs1275074212
NM_001277115.2(DNAH11):c.13346_13367del (p.Arg4449fs) rs1257886811
NM_001277115.2(DNAH11):c.13515_13526dup (p.Val4510_Ala4511insLeuAlaGlyVal) rs1254126467
NM_001277115.2(DNAH11):c.13531_*36del (p.Ala4511_Ter4517del) rs1554294478
NM_001277115.2(DNAH11):c.1425+1G>T
NM_001277115.2(DNAH11):c.1426-2A>G rs1064794014
NM_001277115.2(DNAH11):c.1974-1G>C
NM_001277115.2(DNAH11):c.2169+2T>C
NM_001277115.2(DNAH11):c.2274+1del rs2534596587
NM_001277115.2(DNAH11):c.2341G>A (p.Glu781Lys)
NM_001277115.2(DNAH11):c.2709del (p.Trp904fs)
NM_001277115.2(DNAH11):c.2712G>A (p.Trp904Ter)
NM_001277115.2(DNAH11):c.2832dup (p.Gln945fs)
NM_001277115.2(DNAH11):c.3256-2A>C rs2128447056
NM_001277115.2(DNAH11):c.346C>T (p.Gln116Ter) rs374802008
NM_001277115.2(DNAH11):c.3727G>T (p.Glu1243Ter)
NM_001277115.2(DNAH11):c.3750dup (p.Cys1251fs)
NM_001277115.2(DNAH11):c.3871G>A (p.Ala1291Thr) rs1369525489
NM_001277115.2(DNAH11):c.3898C>T (p.Gln1300Ter)
NM_001277115.2(DNAH11):c.4012-1G>C
NM_001277115.2(DNAH11):c.4130G>A (p.Trp1377Ter)
NM_001277115.2(DNAH11):c.4425C>A (p.Tyr1475Ter) rs373706559
NM_001277115.2(DNAH11):c.4504C>T (p.Gln1502Ter) rs774689207
NM_001277115.2(DNAH11):c.4516_4517del (p.Leu1506fs)
NM_001277115.2(DNAH11):c.4552C>T (p.Gln1518Ter) rs369681389
NM_001277115.2(DNAH11):c.4655G>T (p.Cys1552Phe)
NM_001277115.2(DNAH11):c.4669C>T (p.Arg1557Ter)
NM_001277115.2(DNAH11):c.4726-1G>A rs72657326
NM_001277115.2(DNAH11):c.4817+1_4817+16del rs2534777695
NM_001277115.2(DNAH11):c.4880G>A (p.Arg1627His)
NM_001277115.2(DNAH11):c.4942C>T (p.Gln1648Ter)
NM_001277115.2(DNAH11):c.495+2T>C
NM_001277115.2(DNAH11):c.5192A>T (p.Glu1731Val) rs1401504319
NM_001277115.2(DNAH11):c.5328+1G>T
NM_001277115.2(DNAH11):c.5491T>A (p.Ser1831Thr)
NM_001277115.2(DNAH11):c.5500C>G (p.Arg1834Gly)
NM_001277115.2(DNAH11):c.5506C>T (p.Arg1836Ter) rs370080269
NM_001277115.2(DNAH11):c.5643A>T (p.Gln1881His)
NM_001277115.2(DNAH11):c.5665G>T (p.Gly1889Trp)
NM_001277115.2(DNAH11):c.5692G>A (p.Gly1898Arg) rs767246053
NM_001277115.2(DNAH11):c.5845C>T (p.Arg1949Ter) rs372143147
NM_001277115.2(DNAH11):c.6273+1G>T
NM_001277115.2(DNAH11):c.6506C>A (p.Ser2169Ter) rs373946181
NM_001277115.2(DNAH11):c.6664C>T (p.Arg2222Ter) rs773498002
NM_001277115.2(DNAH11):c.6727C>G (p.Arg2243Gly)
NM_001277115.2(DNAH11):c.6895G>T (p.Glu2299Ter) rs1156473739
NM_001277115.2(DNAH11):c.6915C>G (p.Ser2305Arg)
NM_001277115.2(DNAH11):c.7134+1G>A
NM_001277115.2(DNAH11):c.7267-1G>T rs759302236
NM_001277115.2(DNAH11):c.7441-1G>C rs2128489042
NM_001277115.2(DNAH11):c.7508_7509insTTG (p.Gly2503_Lys2504insTer) rs797045086
NM_001277115.2(DNAH11):c.7544G>A (p.Gly2515Glu)
NM_001277115.2(DNAH11):c.7812-2A>G rs1166463469
NM_001277115.2(DNAH11):c.7913A>G (p.Gln2638Arg)
NM_001277115.2(DNAH11):c.7914G>C (p.Gln2638His) rs72657362
NM_001277115.2(DNAH11):c.793_794insCAGCT (p.Arg265fs) rs770628646
NM_001277115.2(DNAH11):c.8005C>T (p.Gln2669Ter)
NM_001277115.2(DNAH11):c.8114A>G (p.His2705Arg)
NM_001277115.2(DNAH11):c.8356T>A (p.Tyr2786Asn)
NM_001277115.2(DNAH11):c.8533C>T (p.Arg2845Ter) rs121908854
NM_001277115.2(DNAH11):c.8589C>G (p.Ser2863Arg)
NM_001277115.2(DNAH11):c.8632C>T (p.Gln2878Ter)
NM_001277115.2(DNAH11):c.883-1G>A rs2534482993
NM_001277115.2(DNAH11):c.9103-2A>C
NM_001277115.2(DNAH11):c.9113_9116del (p.Lys3038fs) rs1238389932
NM_001277115.2(DNAH11):c.9239T>C (p.Leu3080Pro)
NM_001277115.2(DNAH11):c.927_931del (p.Ser312fs) rs1266458783
NM_001277115.2(DNAH11):c.9430C>T (p.Gln3144Ter) rs1428188386
NM_001277115.2(DNAH11):c.953T>C (p.Leu318Pro)
NM_001277115.2(DNAH11):c.9581_9582del (p.Leu3194fs) rs756621896
NM_001277115.2(DNAH11):c.9685C>T (p.Arg3229Trp) rs886536075
NM_001277115.2(DNAH11):c.9824A>C (p.Tyr3275Ser)
NM_018719.5(CDCA7L):c.*1065_*1075del
NM_018719.5(CDCA7L):c.*1144C>T
NM_018719.5(CDCA7L):c.*1287_*1290dup
NM_018719.5(CDCA7L):c.*1313C>G

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