ClinVar Miner

List of variants in gene INVS reported as pathogenic by Invitae

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Gene type:
ClinVar version:
Total variants: 76
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HGVS dbSNP gnomAD frequency
NM_014425.5(INVS):c.2695C>T (p.Arg899Ter) rs200844390 0.00009
NM_014425.5(INVS):c.1453del (p.Gln485fs) rs753348470 0.00006
NM_014425.5(INVS):c.2782C>T (p.Arg928Ter) rs376879175 0.00005
NM_014425.5(INVS):c.1078+1G>A rs375416014 0.00001
NM_014425.5(INVS):c.1186C>T (p.Arg396Ter) rs773049314 0.00001
NM_014425.5(INVS):c.1484G>A (p.Trp495Ter) rs149055711 0.00001
NM_014425.5(INVS):c.1789C>T (p.Arg597Ter) rs755288504 0.00001
NM_014425.5(INVS):c.1807C>T (p.Arg603Ter) rs121964994 0.00001
NM_014425.5(INVS):c.2786+1G>A rs935629850 0.00001
NM_014425.5(INVS):c.464G>A (p.Trp155Ter) rs1007394906 0.00001
NC_000009.11:g.(?_103008898)_(103009069_?)del
NC_000009.11:g.(?_103014545)_(103015438_?)del
NC_000009.11:g.(?_103027084)_(103035378_?)del
NC_000009.12:g.(?_100104498)_(100104627_?)del
NC_000009.12:g.(?_100126363)_(100126569_?)del
NM_014425.5(INVS):c.1037C>A (p.Ser346Ter)
NM_014425.5(INVS):c.1162_1163del (p.Val388fs)
NM_014425.5(INVS):c.1211del (p.Asp404fs)
NM_014425.5(INVS):c.1317C>A (p.Cys439Ter)
NM_014425.5(INVS):c.1354C>T (p.Gln452Ter)
NM_014425.5(INVS):c.1367del (p.Gly456fs)
NM_014425.5(INVS):c.1465G>T (p.Gly489Ter)
NM_014425.5(INVS):c.1503C>G (p.Tyr501Ter)
NM_014425.5(INVS):c.1566_1567AG[4] (p.Tyr525fs)
NM_014425.5(INVS):c.1663C>T (p.Gln555Ter)
NM_014425.5(INVS):c.1690del (p.Ala564fs)
NM_014425.5(INVS):c.1717A>T (p.Lys573Ter)
NM_014425.5(INVS):c.1726C>T (p.Arg576Ter)
NM_014425.5(INVS):c.1760del (p.Gln587fs) rs1833004339
NM_014425.5(INVS):c.177_180dup (p.Leu61fs) rs1564123602
NM_014425.5(INVS):c.1793_1794del (p.Glu598fs)
NM_014425.5(INVS):c.1811_1812del (p.Lys604fs) rs1588145141
NM_014425.5(INVS):c.1812del (p.Glu605fs)
NM_014425.5(INVS):c.1822del (p.Gln608fs)
NM_014425.5(INVS):c.2002G>T (p.Gly668Ter) rs764384987
NM_014425.5(INVS):c.2012del (p.Gln671fs)
NM_014425.5(INVS):c.2056A>T (p.Arg686Ter) rs150001738
NM_014425.5(INVS):c.2116del (p.Arg706fs)
NM_014425.5(INVS):c.2225dup (p.Lys743fs)
NM_014425.5(INVS):c.2230C>T (p.Gln744Ter)
NM_014425.5(INVS):c.2299dup (p.Leu767fs)
NM_014425.5(INVS):c.2322G>A (p.Trp774Ter)
NM_014425.5(INVS):c.2372dup (p.Lys792fs) rs2118762244
NM_014425.5(INVS):c.2449dup (p.Glu817fs)
NM_014425.5(INVS):c.245del (p.Arg82fs)
NM_014425.5(INVS):c.2501_2502del (p.Lys834fs) rs777723411
NM_014425.5(INVS):c.2509C>T (p.Gln837Ter) rs755549444
NM_014425.5(INVS):c.2614C>T (p.Gln872Ter)
NM_014425.5(INVS):c.2618dup (p.Ser874fs)
NM_014425.5(INVS):c.2622dup (p.Lys875Ter)
NM_014425.5(INVS):c.2659C>T (p.Gln887Ter)
NM_014425.5(INVS):c.2716_2717del (p.Glu906fs)
NM_014425.5(INVS):c.2719C>T (p.Arg907Ter) rs267607185
NM_014425.5(INVS):c.2729del (p.Lys910fs) rs757019335
NM_014425.5(INVS):c.2786+2T>C rs1322951938
NM_014425.5(INVS):c.2801del (p.Lys934fs) rs2118781593
NM_014425.5(INVS):c.2844_2848del (p.Asp949fs)
NM_014425.5(INVS):c.2887C>T (p.Gln963Ter) rs1425211517
NM_014425.5(INVS):c.2894G>A (p.Trp965Ter)
NM_014425.5(INVS):c.2972C>G (p.Ser991Ter) rs1329661241
NM_014425.5(INVS):c.2996C>G (p.Ser999Ter)
NM_014425.5(INVS):c.302_305del (p.Leu101fs)
NM_014425.5(INVS):c.321G>A (p.Trp107Ter)
NM_014425.5(INVS):c.337del (p.Glu113fs)
NM_014425.5(INVS):c.342_343del (p.Glu114fs)
NM_014425.5(INVS):c.497_512dup (p.His171fs) rs779545419
NM_014425.5(INVS):c.497del (p.Lys166fs)
NM_014425.5(INVS):c.630dup (p.Glu211fs)
NM_014425.5(INVS):c.648G>A (p.Trp216Ter)
NM_014425.5(INVS):c.662dup (p.Arg222fs) rs769739938
NM_014425.5(INVS):c.664C>T (p.Arg222Ter)
NM_014425.5(INVS):c.673_674del (p.Leu225fs) rs1205325321
NM_014425.5(INVS):c.766C>T (p.Arg256Ter)
NM_014425.5(INVS):c.833del (p.Asn278fs)
NM_014425.5(INVS):c.83del (p.Gly28fs) rs763565647
NM_014425.5(INVS):c.983G>A (p.Trp328Ter)

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