ClinVar Miner

List of variants reported as uncertain significance for Primary ciliary dyskinesia 11

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Total variants: 50
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HGVS dbSNP gnomAD frequency
NM_001010892.3(RSPH4A):c.1917-4A>G rs201826366 0.00223
NM_001010892.3(RSPH4A):c.2101G>C (p.Glu701Gln) rs140660854 0.00194
NM_001010892.3(RSPH4A):c.1662+15C>T rs183372450 0.00141
NM_001010892.3(RSPH4A):c.1974A>G (p.Thr658=) rs142977481 0.00126
NM_001010892.3(RSPH4A):c.1990C>T (p.Pro664Ser) rs146142715 0.00122
NM_001010892.3(RSPH4A):c.*277A>G rs148830140 0.00117
NM_001010892.3(RSPH4A):c.584C>G (p.Pro195Arg) rs141226759 0.00040
NM_001010892.3(RSPH4A):c.930C>T (p.Asn310=) rs180881714 0.00021
NM_001010892.3(RSPH4A):c.*469T>C rs191910575 0.00018
NM_001010892.3(RSPH4A):c.1340T>C (p.Val447Ala) rs371062144 0.00018
NM_001010892.3(RSPH4A):c.287C>T (p.Pro96Leu) rs201187909 0.00015
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.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.-88A>G rs780704629 0.00007
NM_001010892.3(RSPH4A):c.1563T>C (p.Asn521=) rs143732959 0.00007
NM_001010892.3(RSPH4A):c.237A>G (p.Thr79=) rs145831200 0.00007
NM_001010892.3(RSPH4A):c.1748T>C (p.Ile583Thr) rs141807210 0.00006
NM_001010892.3(RSPH4A):c.1247C>T (p.Ala416Val) rs61738662 0.00005
NM_001010892.3(RSPH4A):c.1377G>A (p.Lys459=) rs563352149 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.*64A>C rs143307769 0.00003
NM_001010892.3(RSPH4A):c.1103T>G (p.Val368Gly) rs747419302 0.00003
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.1875A>G (p.Gln625=) rs1248636409 0.00002
NM_001010892.3(RSPH4A):c.1969T>C (p.Tyr657His) rs769766758 0.00002
NM_001010892.3(RSPH4A):c.*224C>T rs886060996 0.00001
NM_001010892.3(RSPH4A):c.*500G>A rs886060997 0.00001
NM_001010892.3(RSPH4A):c.1111G>A (p.Val371Met) rs1379993014 0.00001
NM_001010892.3(RSPH4A):c.1478C>A (p.Ala493Glu) rs753449428 0.00001
NM_001010892.3(RSPH4A):c.1559G>A (p.Arg520Gln) rs148954304 0.00001
NM_001010892.3(RSPH4A):c.1764G>A (p.Gly588=) rs376516018 0.00001
NM_001010892.3(RSPH4A):c.1829G>A (p.Arg610Gln) rs751741926 0.00001
NM_001010892.3(RSPH4A):c.711G>A (p.Leu237=) rs752300778 0.00001
NM_001010892.3(RSPH4A):c.*223A>T rs1775827195
NM_001010892.3(RSPH4A):c.-50T>C rs1775505157
NM_001010892.3(RSPH4A):c.103T>C (p.Ser35Pro) rs2482776933
NM_001010892.3(RSPH4A):c.1514T>C (p.Phe505Ser) rs565491418
NM_001010892.3(RSPH4A):c.1843C>G (p.Leu615Val) rs886060994
NM_001010892.3(RSPH4A):c.1894G>A (p.Ala632Thr) rs2115365669
NM_001010892.3(RSPH4A):c.198A>G (p.Arg66=) rs1775511668
NM_001010892.3(RSPH4A):c.206C>G (p.Thr69Arg)
NM_001010892.3(RSPH4A):c.2081A>G (p.Glu694Gly) rs1483719333
NM_001010892.3(RSPH4A):c.2095G>A (p.Ala699Thr) rs372304999
NM_001010892.3(RSPH4A):c.586G>A (p.Ala196Thr) rs1436446801

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