ClinVar Miner

List of variants in gene FANCM studied for Spermatogenic failure 28

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Total variants: 42
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HGVS dbSNP gnomAD frequency
NM_020937.4(FANCM):c.2632G>T (p.Val878Leu) rs1367580 0.19378
NM_020937.4(FANCM):c.4318-27G>A rs8020533 0.19361
NM_020937.4(FANCM):c.5434C>G (p.Pro1812Ala) rs3736772 0.08766
NM_020937.4(FANCM):c.4378A>G (p.Ile1460Val) rs78211950 0.08024
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_020937.4(FANCM):c.5101C>T (p.Gln1701Ter) rs147021911 0.00104
NM_020937.4(FANCM):c.5791C>T (p.Arg1931Ter) rs144567652 0.00088
NM_020937.4(FANCM):c.1237T>C (p.Tyr413His) rs138225703 0.00086
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_020937.4(FANCM):c.1972C>T (p.Arg658Ter) rs368728266 0.00009
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_020937.4(FANCM):c.1491dup (p.Gln498fs) rs797045116 0.00005
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_020937.4(FANCM):c.1046T>C (p.Ile349Thr) rs150185654 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_020937.4(FANCM):c.1397-15TA[6] rs112326758
NM_020937.4(FANCM):c.1946_1958del (p.Pro649fs) rs1555363275
NM_020937.4(FANCM):c.2095G>T (p.Glu699Ter) rs1888281367
NM_020937.4(FANCM):c.2586_2589del (p.Lys863fs) rs768006618
NM_020937.4(FANCM):c.3095A>T (p.Asp1032Val) rs776989238
NM_020937.4(FANCM):c.4387-10A>G rs1555365959
NM_020937.4(FANCM):c.4516-5_4516-2del rs796584585
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

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