ClinVar Miner

List of variants in gene INVS reported by Eurofins NTD LLC (GA)

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 111
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HGVS dbSNP gnomAD frequency
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.2402G>A (p.Gly801Glu) rs76868679 0.02854
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.1948G>C (p.Ala650Pro) rs147452898 0.00394
NM_014425.5(INVS):c.2803C>T (p.His935Tyr) rs139768159 0.00232
NM_014425.5(INVS):c.-17C>T rs181463817 0.00194
NM_014425.5(INVS):c.2193C>T (p.Gly731=) rs148758887 0.00158
NM_014425.5(INVS):c.913G>A (p.Val305Ile) rs116438342 0.00140
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.1704G>A (p.Gly568=) rs114645869 0.00073
NM_014425.5(INVS):c.2775C>T (p.Arg925=) rs146360442 0.00071
NM_014425.5(INVS):c.2517G>A (p.Lys839=) rs147041710 0.00070
NM_014425.5(INVS):c.2454G>A (p.Ala818=) rs115937161 0.00067
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.1971C>G (p.Asp657Glu) rs114942117 0.00048
NM_014425.5(INVS):c.2785A>G (p.Ser929Gly) rs116188920 0.00048
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.1122G>A (p.Lys374=) rs140255233 0.00026
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.2200C>T (p.Arg734Trp) rs370949695 0.00022
NM_014425.5(INVS):c.67G>A (p.Val23Ile) rs145303373 0.00021
NM_014425.5(INVS):c.1459A>C (p.Lys487Gln) rs398124271 0.00016
NM_014425.5(INVS):c.198T>C (p.Ala66=) rs150557072 0.00012
NM_014425.5(INVS):c.706G>A (p.Val236Met) rs150883233 0.00011
NM_014425.5(INVS):c.2776G>A (p.Ala926Thr) rs374891838 0.00010
NM_014425.5(INVS):c.1661T>C (p.Ile554Thr) rs748753412 0.00009
NM_014425.5(INVS):c.284G>A (p.Arg95His) rs372088206 0.00009
NM_014425.5(INVS):c.2335C>T (p.Arg779Trp) rs370643191 0.00008
NM_014425.5(INVS):c.2740C>T (p.Arg914Cys) rs201904771 0.00008
NM_014425.5(INVS):c.1453del (p.Gln485fs) rs753348470 0.00006
NM_014425.5(INVS):c.1943A>G (p.Asn648Ser) rs116686341 0.00006
NM_014425.5(INVS):c.2444G>A (p.Arg815Gln) rs200477298 0.00006
NM_014425.5(INVS):c.2782C>T (p.Arg928Ter) rs376879175 0.00005
NM_014425.5(INVS):c.1107T>C (p.His369=) rs760637052 0.00004
NM_014425.5(INVS):c.1111A>G (p.Ser371Gly) rs200546215 0.00004
NM_014425.5(INVS):c.1490G>A (p.Cys497Tyr) rs1296545586 0.00004
NM_014425.5(INVS):c.1913G>A (p.Arg638Gln) rs761806481 0.00004
NM_014425.5(INVS):c.2443C>T (p.Arg815Trp) rs564509196 0.00004
NM_014425.5(INVS):c.2453C>T (p.Ala818Val) rs115324411 0.00004
NM_014425.5(INVS):c.3028G>A (p.Glu1010Lys) rs375774619 0.00004
NM_014425.5(INVS):c.1017A>C (p.Arg339Ser) rs201043963 0.00003
NM_014425.5(INVS):c.1175C>T (p.Thr392Ile) rs747812451 0.00003
NM_014425.5(INVS):c.1639G>C (p.Gly547Arg) rs368682890 0.00003
NM_014425.5(INVS):c.1669A>G (p.Ile557Val) rs762519529 0.00003
NM_014425.5(INVS):c.1727G>A (p.Arg576Gln) rs758506682 0.00003
NM_014425.5(INVS):c.197C>T (p.Ala66Val) rs772644712 0.00003
NM_014425.5(INVS):c.2337G>C (p.Arg779=) rs779298889 0.00003
NM_014425.5(INVS):c.2429G>A (p.Arg810His) rs772496111 0.00003
NM_014425.5(INVS):c.2604C>T (p.Ser868=) rs751765105 0.00003
NM_014425.5(INVS):c.2819G>A (p.Arg940Gln) rs369751285 0.00003
NM_014425.5(INVS):c.815A>C (p.His272Pro) rs151080341 0.00003
NM_014425.5(INVS):c.2760A>G (p.Ala920=) rs745573372 0.00002
NM_014425.5(INVS):c.2774G>A (p.Arg925His) rs370713515 0.00002
NM_014425.5(INVS):c.3079C>T (p.Arg1027Cys) rs771248759 0.00002
NM_014425.5(INVS):c.3080G>A (p.Arg1027His) rs774849762 0.00002
NM_014425.5(INVS):c.1079-7C>T rs1185982706 0.00001
NM_014425.5(INVS):c.1980A>G (p.Gly660=) rs139314036 0.00001
NM_014425.5(INVS):c.2224G>A (p.Val742Met) rs115598824 0.00001
NM_014425.5(INVS):c.2485C>T (p.Arg829Cys) rs780527510 0.00001
NM_014425.5(INVS):c.3016+5C>T rs142606077 0.00001
NM_014425.5(INVS):c.3027C>T (p.His1009=) rs201136636 0.00001
NM_014425.5(INVS):c.33T>C (p.Gly11=) rs1554713054 0.00001
NM_014425.5(INVS):c.520A>C (p.Asn174His) rs370730139 0.00001
NM_014425.5(INVS):c.1051A>C (p.Asn351His) rs1564174503
NM_014425.5(INVS):c.107-7C>T rs1564123526
NM_014425.5(INVS):c.131A>C (p.Glu44Ala) rs1564123563
NM_014425.5(INVS):c.1366G>C (p.Gly456Arg) rs1019928360
NM_014425.5(INVS):c.1464+1G>T rs375753623
NM_014425.5(INVS):c.1496A>G (p.Asn499Ser) rs1564182761
NM_014425.5(INVS):c.1784+8T>C rs781669059
NM_014425.5(INVS):c.1790G>A (p.Arg597Gln) rs1291135236
NM_014425.5(INVS):c.1842C>G (p.Ser614Arg) rs1564190202
NM_014425.5(INVS):c.1986A>G (p.Pro662=) rs1176710652
NM_014425.5(INVS):c.1994C>G (p.Ser665Cys) rs533008444
NM_014425.5(INVS):c.2097_2098del (p.Gln699fs) rs1564193130
NM_014425.5(INVS):c.2107G>A (p.Val703Ile) rs1564193132
NM_014425.5(INVS):c.2123A>G (p.Asn708Ser) rs770047072
NM_014425.5(INVS):c.2194G>A (p.Asp732Asn) rs1351418236
NM_014425.5(INVS):c.2509C>T (p.Gln837Ter) rs755549444
NM_014425.5(INVS):c.2576C>T (p.Ala859Val) rs1554730793
NM_014425.5(INVS):c.2620T>C (p.Ser874Pro) rs1564193747
NM_014425.5(INVS):c.2665G>A (p.Val889Met) rs771857927
NM_014425.5(INVS):c.266C>T (p.Ala89Val) rs1341471827
NM_014425.5(INVS):c.2686G>A (p.Val896Ile) rs114847355
NM_014425.5(INVS):c.2822A>G (p.His941Arg) rs886042226
NM_014425.5(INVS):c.2834T>A (p.Leu945His) rs757927270
NM_014425.5(INVS):c.2843G>A (p.Gly948Glu) rs1564195393
NM_014425.5(INVS):c.2933C>T (p.Ala978Val) rs794727147
NM_014425.5(INVS):c.3051A>G (p.Thr1017=) rs1381275842
NM_014425.5(INVS):c.3092-6del rs886044279
NM_014425.5(INVS):c.3117_3119del (p.Leu1040del) rs1273204300
NM_014425.5(INVS):c.3137_3138insTTC (p.Ser1046dup) rs778453251
NM_014425.5(INVS):c.3182dup (p.Asn1061fs) rs760013326
NM_014425.5(INVS):c.336G>A (p.Leu112=) rs1564165829
NM_014425.5(INVS):c.484C>G (p.Pro162Ala) rs1564167356
NM_014425.5(INVS):c.662dup (p.Arg222fs) rs769739938
NM_014425.5(INVS):c.779A>C (p.His260Pro) rs747189159
NM_014425.5(INVS):c.809T>C (p.Ile270Thr) rs1564172870
NM_014425.5(INVS):c.830G>A (p.Arg277Lys) rs1230011174
NM_014425.5(INVS):c.954A>G (p.Ser318=) rs778265507

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