ClinVar Miner

List of variants in gene INVS reported by PreventionGenetics, part of Exact Sciences

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Gene type:
ClinVar version:
Total variants: 74
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HGVS dbSNP gnomAD frequency
NM_014425.5(INVS):c.3016+48A>G rs7864494 0.67174
NM_014425.5(INVS):c.2412T>C (p.Ser804=) rs2787374 0.53208
NM_014425.5(INVS):c.1235-5T>C rs2245216 0.30271
NM_014425.5(INVS):c.274-15_274-14del rs61147858 0.18785
NM_014425.5(INVS):c.2068+31G>A rs11790431 0.18400
NM_014425.5(INVS):c.2787-23C>G rs41274951 0.13745
NM_014425.5(INVS):c.273+46C>T rs76975466 0.03524
NM_014425.5(INVS):c.2402G>A (p.Gly801Glu) rs76868679 0.02854
NM_014425.5(INVS):c.616-19T>C rs78038572 0.01891
NM_014425.5(INVS):c.102C>T (p.Ile34=) rs115640267 0.00549
NM_014425.5(INVS):c.740A>G (p.Asn247Ser) rs41312220 0.00526
NM_014425.5(INVS):c.725C>T (p.Ser242Leu) rs2491097 0.00485
NM_014425.5(INVS):c.2116A>G (p.Arg706Gly) rs116222916 0.00384
NM_014425.5(INVS):c.1284T>C (p.His428=) rs77465715 0.00312
NM_014425.5(INVS):c.3017-5T>G rs201018893 0.00177
NM_014425.5(INVS):c.2310C>T (p.His770=) rs116606949 0.00118
NM_014425.5(INVS):c.1945G>A (p.Val649Met) rs115042730 0.00087
NM_014425.5(INVS):c.1925A>G (p.Lys642Arg) rs116314059 0.00076
NM_014425.5(INVS):c.2311G>A (p.Asp771Asn) rs115754570 0.00074
NM_014425.5(INVS):c.367C>T (p.Arg123Trp) rs149315279 0.00067
NM_014425.5(INVS):c.2313T>C (p.Asp771=) rs147112151 0.00059
NM_014425.5(INVS):c.2386C>G (p.Gln796Glu) rs147731667 0.00058
NM_014425.5(INVS):c.2056A>G (p.Arg686Gly) rs150001738 0.00034
NM_014425.5(INVS):c.118C>G (p.Leu40Val) rs148219510 0.00032
NM_014425.5(INVS):c.2278T>G (p.Ser760Ala) rs146901872 0.00032
NM_014425.5(INVS):c.2664T>C (p.Ser888=) rs1052867 0.00026
NM_014425.5(INVS):c.114T>C (p.Ser38=) rs114056499 0.00022
NM_014425.5(INVS):c.1264G>C (p.Asp422His) rs145243134 0.00014
NM_014425.5(INVS):c.2685C>T (p.Pro895=) rs371932940 0.00011
NM_014425.5(INVS):c.706G>A (p.Val236Met) rs150883233 0.00011
NM_014425.5(INVS):c.2695C>T (p.Arg899Ter) rs200844390 0.00009
NM_014425.5(INVS):c.3099C>T (p.Asn1033=) rs368303175 0.00009
NM_014425.5(INVS):c.1374C>A (p.Thr458=) rs114912725 0.00007
NM_014425.5(INVS):c.1038G>A (p.Ser346=) rs372355067 0.00006
NM_014425.5(INVS):c.1453del (p.Gln485fs) rs753348470 0.00006
NM_014425.5(INVS):c.2720G>A (p.Arg907Gln) rs781064013 0.00006
NM_014425.5(INVS):c.2764G>C (p.Val922Leu) rs375031657 0.00006
NM_014425.5(INVS):c.1107T>C (p.His369=) rs760637052 0.00004
NM_014425.5(INVS):c.1653C>T (p.Ile551=) rs781357714 0.00004
NM_014425.5(INVS):c.972A>G (p.Thr324=) rs779527994 0.00004
NM_014425.5(INVS):c.1815G>C (p.Glu605Asp) rs540466137 0.00003
NM_014425.5(INVS):c.3153T>C (p.Tyr1051=) rs764214687 0.00003
NM_014425.5(INVS):c.1079-13G>C rs373264811 0.00002
NM_014425.5(INVS):c.1024C>T (p.Leu342=) rs761575712 0.00001
NM_014425.5(INVS):c.1186C>T (p.Arg396Ter) rs773049314 0.00001
NM_014425.5(INVS):c.1508A>G (p.Asp503Gly) rs1832737838 0.00001
NM_014425.5(INVS):c.1980A>G (p.Gly660=) rs139314036 0.00001
NM_014425.5(INVS):c.2031C>T (p.Ser677=) rs756240366 0.00001
NM_014425.5(INVS):c.1131G>A (p.Leu377=) rs780406236
NM_014425.5(INVS):c.1219C>T (p.Gln407Ter)
NM_014425.5(INVS):c.1464+10C>G
NM_014425.5(INVS):c.1506T>C (p.Leu502=)
NM_014425.5(INVS):c.178A>C (p.Arg60=) rs886038603
NM_014425.5(INVS):c.2049A>G (p.Thr683=)
NM_014425.5(INVS):c.2334G>A (p.Arg778=)
NM_014425.5(INVS):c.2364T>C (p.Cys788=)
NM_014425.5(INVS):c.2367C>A (p.Ala789=)
NM_014425.5(INVS):c.2523A>G (p.Thr841=)
NM_014425.5(INVS):c.2568G>A (p.Arg856=) rs886038604
NM_014425.5(INVS):c.2582G>C (p.Arg861Thr) rs760537423
NM_014425.5(INVS):c.2652C>A (p.Leu884=)
NM_014425.5(INVS):c.2686G>C (p.Val896Leu) rs114847355
NM_014425.5(INVS):c.2787-4C>A
NM_014425.5(INVS):c.2832G>A (p.Gln944=)
NM_014425.5(INVS):c.2841T>G (p.Ala947=)
NM_014425.5(INVS):c.2979A>G (p.Thr993=)
NM_014425.5(INVS):c.3000G>A (p.Val1000=)
NM_014425.5(INVS):c.447+4A>C
NM_014425.5(INVS):c.504C>T (p.Leu168=)
NM_014425.5(INVS):c.615+13G>T rs761240492
NM_014425.5(INVS):c.663T>G (p.Gly221=)
NM_014425.5(INVS):c.756T>C (p.Asp252=)
NM_014425.5(INVS):c.849C>T (p.Ile283=) rs886038605
NM_014425.5(INVS):c.96G>A (p.Arg32=) rs1588000254

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