ClinVar Miner

List of variants reported as uncertain significance for spermatogenic failure by Baylor Genetics

Included ClinVar conditions (116):
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ClinVar version:
Total variants: 39
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HGVS dbSNP gnomAD frequency
NM_020937.4(FANCM):c.5224A>G (p.Ile1742Val) rs143662421 0.00824
NM_020937.4(FANCM):c.527C>T (p.Thr176Ile) rs77374493 0.00371
NM_020937.4(FANCM):c.1576C>G (p.Leu526Val) rs144215747 0.00147
NM_194302.4(CFAP65):c.1489G>A (p.Ala497Thr) rs148965868 0.00110
NM_020937.4(FANCM):c.1237T>C (p.Tyr413His) rs138225703 0.00086
NM_015512.5(DNAH1):c.9814C>T (p.Arg3272Cys) rs200784189 0.00085
NM_020937.4(FANCM):c.2859A>C (p.Lys953Asn) rs142864437 0.00064
NM_020937.4(FANCM):c.2173A>G (p.Thr725Ala) rs146325649 0.00053
NM_020937.4(FANCM):c.5020A>G (p.Ser1674Gly) rs140499872 0.00052
NM_020937.4(FANCM):c.1249G>C (p.Glu417Gln) rs141729590 0.00025
NM_020937.4(FANCM):c.2809C>T (p.Leu937Phe) rs138274490 0.00017
NM_020937.4(FANCM):c.2003-3T>C rs777799598 0.00016
NM_020937.4(FANCM):c.2518G>A (p.Val840Ile) rs374402732 0.00016
NM_020937.4(FANCM):c.1741C>T (p.Arg581Cys) rs202171930 0.00014
NM_025145.7(CFAP43):c.929T>C (p.Val310Ala) rs138825875 0.00014
NM_001271718.2(SPINK2):c.360-3C>T rs375854132 0.00011
NM_020937.4(FANCM):c.547A>C (p.Ser183Arg) rs368937236 0.00009
NM_020937.4(FANCM):c.3794A>G (p.Glu1265Gly) rs763808637 0.00006
NM_152467.5(KLHL10):c.923T>C (p.Ile308Thr) rs377399919 0.00006
NM_020937.4(FANCM):c.523T>C (p.Ser175Pro) rs779858649 0.00005
NM_020937.4(FANCM):c.1192C>T (p.Arg398Trp) rs752364451 0.00004
NM_020937.4(FANCM):c.3147A>C (p.Leu1049Phe) rs147299864 0.00004
NM_020937.4(FANCM):c.1667A>G (p.Asp556Gly) rs148810507 0.00003
NM_015512.5(DNAH1):c.2339G>A (p.Arg780Gln) rs763577633 0.00002
NM_020937.4(FANCM):c.1046T>C (p.Ile349Thr) rs150185654 0.00002
NM_153046.3(TDRD9):c.448G>A (p.Val150Met) rs752708200 0.00002
NM_020937.4(FANCM):c.1074G>C (p.Glu358Asp) rs1270701063 0.00001
NM_020937.4(FANCM):c.233C>A (p.Ser78Tyr) rs753797551 0.00001
NM_020937.4(FANCM):c.4946T>G (p.Leu1649Arg) rs1472981713 0.00001
NM_020937.4(FANCM):c.812C>G (p.Ser271Cys) rs767396394 0.00001
NM_020937.4(FANCM):c.868A>G (p.Ile290Val) rs780426259 0.00001
NM_033123.4(PLCZ1):c.1154G>A (p.Arg385Gln) rs758890842 0.00001
NM_001164496.2(CFAP44):c.316T>C (p.Ser106Pro) rs749618390
NM_001350162.2(TEX15):c.3323T>C (p.Leu1108Pro) rs1807627307
NM_020937.4(FANCM):c.3095A>T (p.Asp1032Val) rs776989238
NM_020937.4(FANCM):c.4641del (p.Asn1547fs) rs1889334318
NM_020937.4(FANCM):c.5293A>G (p.Thr1765Ala) rs1386457912
NM_020937.4(FANCM):c.5538A>C (p.Glu1846Asp) rs1416312500
NM_153046.3(TDRD9):c.46A>C (p.Ile16Leu) rs868220412

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