ClinVar Miner

List of variants studied for male infertility with teratozoospermia due to single gene mutation

Included ClinVar conditions (6):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 103
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HGVS dbSNP gnomAD frequency
NM_001015878.2(AURKC):c.-145G>C rs11084490 0.86511
NM_001015878.2(AURKC):c.-128C>T rs58264281 0.75512
NM_031955.6(SPATA16):c.397A>G (p.Met133Val) rs1515442 0.39106
NM_031955.6(SPATA16):c.675C>T (p.Ser225=) rs508508 0.17696
NM_031955.6(SPATA16):c.232G>A (p.Glu78Lys) rs1515441 0.11912
NM_031955.6(SPATA16):c.440G>A (p.Gly147Glu) rs16846616 0.09632
NM_031955.6(SPATA16):c.720G>A (p.Arg240=) rs55724801 0.02430
NM_031955.6(SPATA16):c.130T>A (p.Ser44Thr) rs146572379 0.02122
NM_031955.6(SPATA16):c.1577T>C (p.Met526Thr) rs62622782 0.01931
NM_031955.6(SPATA16):c.1526C>T (p.Ala509Val) rs115095786 0.01910
NM_031955.6(SPATA16):c.149A>G (p.Asn50Ser) rs16846624 0.01264
NM_001015878.2(AURKC):c.396G>A (p.Leu132=) rs55710619 0.00991
NM_031955.6(SPATA16):c.1143A>G (p.Gln381=) rs73041295 0.00685
NM_031955.6(SPATA16):c.-121G>A rs189972919 0.00657
NM_001015878.2(AURKC):c.621G>A (p.Pro207=) rs148940837 0.00593
NM_031955.6(SPATA16):c.53A>G (p.His18Arg) rs115897458 0.00450
NM_001015878.2(AURKC):c.436-4A>G rs148623255 0.00299
NM_001015878.2(AURKC):c.760-12T>C rs148264225 0.00279
NM_001015878.2(AURKC):c.12C>G (p.Pro4=) rs73633650 0.00225
NM_031955.6(SPATA16):c.736C>T (p.Leu246Phe) rs116466451 0.00183
NM_001015878.2(AURKC):c.235A>G (p.Ile79Val) rs61736320 0.00180
NM_001015878.2(AURKC):c.435+11G>A rs193015358 0.00130
NM_001015878.2(AURKC):c.*6G>C rs138125119 0.00114
NM_031955.6(SPATA16):c.430A>C (p.Met144Leu) rs140920981 0.00099
NM_144668.6(CFAP251):c.331G>T (p.Glu111Ter) rs199671406 0.00096
NM_031955.6(SPATA16):c.328A>C (p.Met110Leu) rs147011314 0.00046
NM_001015878.2(AURKC):c.744C>G (p.Tyr248Ter) rs55658999 0.00040
NM_031955.6(SPATA16):c.848G>A (p.Arg283Gln) rs137853118 0.00032
NM_173812.5(DPY19L2):c.869G>A (p.Arg290His) rs147579680 0.00023
NM_001015878.2(AURKC):c.-139C>T rs138814299 0.00022
NM_031955.6(SPATA16):c.117C>T (p.Asn39=) rs372937515 0.00022
NM_031955.6(SPATA16):c.996G>A (p.Ala332=) rs138951243 0.00021
NM_031955.6(SPATA16):c.105G>A (p.Ala35=) rs141312480 0.00019
NM_031955.6(SPATA16):c.1401G>T (p.Gln467His) rs143774140 0.00019
NM_001015878.2(AURKC):c.762A>G (p.Val254=) rs55898757 0.00014
NM_031955.6(SPATA16):c.576C>T (p.Tyr192=) rs146363552 0.00010
NM_031955.6(SPATA16):c.*92A>G rs892103462 0.00009
NM_031955.6(SPATA16):c.-142G>A rs566046620 0.00009
NM_031955.6(SPATA16):c.104C>T (p.Ala35Val) rs200483368 0.00009
NM_031955.6(SPATA16):c.25T>C (p.Leu9=) rs150041488 0.00008
NM_001015878.2(AURKC):c.675T>C (p.Ile225=) rs145271279 0.00006
NM_033364.4(CFAP91):c.124G>C (p.Asp42His) rs149348782 0.00006
NM_031955.6(SPATA16):c.91A>T (p.Met31Leu) rs200087565 0.00004
NM_031955.6(SPATA16):c.1513C>T (p.Leu505=) rs758141708 0.00003
NM_031955.6(SPATA16):c.995C>T (p.Ala332Val) rs544088248 0.00003
NM_173812.5(DPY19L2):c.1183del (p.Ser395fs) rs751879424 0.00003
NM_173812.5(DPY19L2):c.1218+1G>A rs868256749 0.00003
NM_173812.5(DPY19L2):c.2038A>T (p.Lys680Ter) rs587777205 0.00003
NM_031955.6(SPATA16):c.251G>A (p.Arg84Gln) rs143065627 0.00002
NM_031955.6(SPATA16):c.613-13A>G rs749048781 0.00002
NM_031955.6(SPATA16):c.750T>C (p.His250=) rs758393334 0.00002
NM_031955.6(SPATA16):c.873G>A (p.Met291Ile) rs368670834 0.00002
NM_173812.5(DPY19L2):c.893G>A (p.Arg298His) rs752764341 0.00002
NM_001015878.2(AURKC):c.-38G>T rs770401705 0.00001
NM_001015878.2(AURKC):c.184C>T (p.Leu62Phe) rs886054645 0.00001
NM_001015878.2(AURKC):c.689A>G (p.Tyr230Cys) rs761881153 0.00001
NM_001015878.2(AURKC):c.779T>C (p.Leu260Pro) rs763668016 0.00001
NM_031955.6(SPATA16):c.*157C>T rs540340589 0.00001
NM_031955.6(SPATA16):c.1361G>A (p.Gly454Asp) rs774830755 0.00001
NM_031955.6(SPATA16):c.1365G>T (p.Val455=) rs199707743 0.00001
NM_031955.6(SPATA16):c.1503+15T>C rs776183936 0.00001
NM_031955.6(SPATA16):c.1588-2A>G rs757711631 0.00001
NM_031955.6(SPATA16):c.205A>G (p.Ile69Val) rs558144498 0.00001
NM_031955.6(SPATA16):c.406C>T (p.Arg136Cys) rs144595913 0.00001
NM_031955.6(SPATA16):c.490C>T (p.His164Tyr) rs780372927 0.00001
NM_031955.6(SPATA16):c.546T>C (p.Asp182=) rs886058187 0.00001
NM_031955.6(SPATA16):c.719G>A (p.Arg240Gln) rs200456888 0.00001
NM_031955.6(SPATA16):c.828G>A (p.Glu276=) rs776236874 0.00001
NM_173812.5(DPY19L2):c.892C>T (p.Arg298Cys) rs587777206 0.00001
NC_000012.11:g.63952693_64062354del
NC_000012.12:g.(?_63558913)_(63669201_?)del
NG_031909.1:g.(12232_26209)_(29173_47048)del
NM_001015878.2(AURKC):c.*38G>A rs35582299
NM_001015878.2(AURKC):c.-53A>C rs2087484333
NM_001015878.2(AURKC):c.-84C>T rs552823754
NM_001015878.2(AURKC):c.145del (p.Leu49fs) rs397515619
NM_001015878.2(AURKC):c.209C>G (p.Ala70Gly) rs2087499420
NM_001015878.2(AURKC):c.351C>T (p.Tyr117=) rs886054646
NM_001015878.2(AURKC):c.436-2A>G rs397515484
NM_001015878.2(AURKC):c.656A>C (p.Lys219Thr) rs2087531534
NM_001015878.2(AURKC):c.686G>A (p.Cys229Tyr) rs121908654
NM_001015878.2(AURKC):c.780A>G (p.Leu260=) rs189830354
NM_001015878.2(AURKC):c.94_101dup (p.Met35fs) rs749123022
NM_031955.6(SPATA16):c.*138C>A rs903704544
NM_031955.6(SPATA16):c.-2C>T rs1737947552
NM_031955.6(SPATA16):c.1117G>A (p.Asp373Asn) rs763912965
NM_031955.6(SPATA16):c.1324A>G (p.Ser442Gly) rs886058186
NM_031955.6(SPATA16):c.1389C>A (p.Ser463Arg) rs1732489716
NM_031955.6(SPATA16):c.430A>G (p.Met144Val) rs140920981
NM_031955.6(SPATA16):c.787C>T (p.Arg263Trp)
NM_032131.6(ARMC2):c.1023+1G>A rs1562372417
NM_032131.6(ARMC2):c.1284_1288del (p.Lys428fs) rs1562381747
NM_032131.6(ARMC2):c.2279T>A (p.Ile760Asn) rs1562435988
NM_032131.6(ARMC2):c.2353_2354del (p.Leu785fs) rs1562436860
NM_032131.6(ARMC2):c.421C>T (p.Gln141Ter) rs1562332833
NM_033364.4(CFAP91):c.682+1G>A rs147597066
NM_144668.6(CFAP251):c.123del (p.Asp42fs) rs749163856
NM_173812.5(DPY19L2):c.1616A>G (p.His539Arg)
NM_173812.5(DPY19L2):c.1816C>T (p.Arg606Cys)
NM_199461.2(NANOS1):c.[737G>A;826_827delinsTA]
NM_199461.4(NANOS1):c.231CTC[3] (p.Ser83del) rs587777031
NM_199461.4(NANOS1):c.373_387del (p.Ser125_Leu129del)
NM_199461.4(NANOS1):c.502GCC[5] (p.Ala173del) rs538539239

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