ClinVar Miner

List of variants in gene ALDH7A1 reported as uncertain significance by GeneDx

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Total variants: 66
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HGVS dbSNP gnomAD frequency
NM_001182.5(ALDH7A1):c.1406G>A (p.Arg469His) rs147940248 0.00118
NM_001182.5(ALDH7A1):c.34del (p.Ala12fs) rs750693623 0.00057
NM_001182.5(ALDH7A1):c.494G>C (p.Gly165Ala) rs375491094 0.00040
NM_001182.5(ALDH7A1):c.203C>A (p.Thr68Asn) rs58528748 0.00032
NM_001182.5(ALDH7A1):c.8G>A (p.Arg3His) rs759866910 0.00022
NM_001182.5(ALDH7A1):c.1276A>G (p.Thr426Ala) rs150305320 0.00019
NM_001182.5(ALDH7A1):c.914C>G (p.Ala305Gly) rs141775154 0.00019
NM_001182.5(ALDH7A1):c.553G>A (p.Val185Ile) rs61757685 0.00016
NM_001182.5(ALDH7A1):c.781A>G (p.Met261Val) rs767172222 0.00010
NM_001182.5(ALDH7A1):c.200C>T (p.Thr67Met) rs543181020 0.00007
NM_001182.5(ALDH7A1):c.1016A>G (p.His339Arg) rs199767457 0.00006
NM_001182.5(ALDH7A1):c.1150G>A (p.Ala384Thr) rs140947675 0.00006
NM_001182.5(ALDH7A1):c.365G>C (p.Arg122Pro) rs796052256 0.00006
NM_001182.5(ALDH7A1):c.1066C>G (p.Gln356Glu) rs138675705 0.00004
NM_001182.5(ALDH7A1):c.154G>C (p.Glu52Gln) rs765562932 0.00004
NM_001182.5(ALDH7A1):c.364C>T (p.Arg122Trp) rs370624118 0.00004
NM_001182.5(ALDH7A1):c.965C>T (p.Ala322Val) rs777483675 0.00004
NM_001182.5(ALDH7A1):c.56C>T (p.Ser19Phe) rs566243475 0.00003
NM_001182.5(ALDH7A1):c.873G>T (p.Gly291=) rs939560417 0.00003
NM_001182.5(ALDH7A1):c.1084C>T (p.Pro362Ser) rs532800318 0.00002
NM_001182.5(ALDH7A1):c.1262C>T (p.Ala421Val) rs753598402 0.00002
NM_001182.5(ALDH7A1):c.1267A>G (p.Ile423Val) rs760266177 0.00002
NM_001182.5(ALDH7A1):c.19G>T (p.Ala7Ser) rs935322440 0.00002
NM_001182.5(ALDH7A1):c.1046G>C (p.Arg349Thr) rs553114356 0.00001
NM_001182.5(ALDH7A1):c.1093C>T (p.Pro365Ser) rs370869432 0.00001
NM_001182.5(ALDH7A1):c.1225G>T (p.Val409Leu) rs796052263 0.00001
NM_001182.5(ALDH7A1):c.1376T>C (p.Ile459Thr) rs1057518529 0.00001
NM_001182.5(ALDH7A1):c.13C>T (p.Pro5Ser) rs745921838 0.00001
NM_001182.5(ALDH7A1):c.1481G>T (p.Gly494Val) rs763418390 0.00001
NM_001182.5(ALDH7A1):c.1566-4C>G rs376308594 0.00001
NM_001182.5(ALDH7A1):c.235A>G (p.Arg79Gly) rs794727259 0.00001
NM_001182.5(ALDH7A1):c.236G>A (p.Arg79Lys) rs781361567 0.00001
NM_001182.5(ALDH7A1):c.542A>G (p.Gln181Arg) rs796052257 0.00001
NM_001182.5(ALDH7A1):c.67A>G (p.Ser23Gly) rs796052266 0.00001
NM_001182.5(ALDH7A1):c.73C>T (p.Pro25Ser) rs762624752 0.00001
NM_001182.5(ALDH7A1):c.797G>A (p.Arg266Gln) rs796052259 0.00001
NM_001182.5(ALDH7A1):c.7C>T (p.Arg3Cys) rs796052265 0.00001
NM_001182.5(ALDH7A1):c.860A>G (p.Gln287Arg) rs796052261 0.00001
NM_001182.5(ALDH7A1):c.907A>G (p.Ile303Val) rs765153843 0.00001
NM_001182.5(ALDH7A1):c.950C>T (p.Ser317Leu) rs148052962 0.00001
NM_001182.4(ALDH7A1):c.1493_1495delGAG rs796052268
NM_001182.5(ALDH7A1):c.1008+4A>G rs753819188
NM_001182.5(ALDH7A1):c.108G>T (p.Gln36His) rs779736481
NM_001182.5(ALDH7A1):c.1126C>A (p.Gln376Lys) rs564187364
NM_001182.5(ALDH7A1):c.1207G>A (p.Asp403Asn) rs796052262
NM_001182.5(ALDH7A1):c.1274A>C (p.His425Pro) rs925199159
NM_001182.5(ALDH7A1):c.1301A>C (p.Tyr434Ser) rs747597620
NM_001182.5(ALDH7A1):c.1441G>T (p.Val481Leu) rs796052264
NM_001182.5(ALDH7A1):c.1559C>T (p.Ser520Phe) rs1554097854
NM_001182.5(ALDH7A1):c.1565G>C (p.Cys522Ser) rs1057521316
NM_001182.5(ALDH7A1):c.173G>A (p.Ser58Asn)
NM_001182.5(ALDH7A1):c.206A>G (p.Tyr69Cys) rs796052258
NM_001182.5(ALDH7A1):c.313-10C>A rs567441242
NM_001182.5(ALDH7A1):c.31_33delinsGAG (p.His11Glu) rs796052269
NM_001182.5(ALDH7A1):c.460T>C (p.Cys154Arg) rs1057520885
NM_001182.5(ALDH7A1):c.536T>C (p.Ile179Thr) rs763217060
NM_001182.5(ALDH7A1):c.616G>A (p.Ala206Thr) rs1751000940
NM_001182.5(ALDH7A1):c.711T>C (p.Val237=) rs2112785401
NM_001182.5(ALDH7A1):c.756TGG[1] (p.Gly254del) rs2112785345
NM_001182.5(ALDH7A1):c.76_82del (p.Ala26fs) rs1373022366
NM_001182.5(ALDH7A1):c.774-6T>A rs1750662333
NM_001182.5(ALDH7A1):c.830A>C (p.Gln277Pro)
NM_001182.5(ALDH7A1):c.8G>C (p.Arg3Pro) rs759866910
NM_001182.5(ALDH7A1):c.8G>T (p.Arg3Leu) rs759866910
NM_001182.5(ALDH7A1):c.956T>A (p.Leu319His) rs1057522342
NM_001182.5(ALDH7A1):c.961G>A (p.Ala321Thr) rs746212816

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