ClinVar Miner

List of variants in gene INVS studied for not specified

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Gene type:
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Total variants: 32
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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.1948G>C (p.Ala650Pro) rs147452898 0.00394
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.2803C>T (p.His935Tyr) rs139768159 0.00232
NM_014425.5(INVS):c.3017-5T>G rs201018893 0.00177
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.1704G>A (p.Gly568=) rs114645869 0.00073
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.1980A>G (p.Gly660=) rs139314036 0.00001
NM_014425.5(INVS):c.301C>T (p.Leu101Phe) rs757623556 0.00001
NM_014425.5(INVS):c.3027C>T (p.His1009=) rs201136636 0.00001
NM_014425.5(INVS):c.1131G>A (p.Leu377=) rs780406236
NM_014425.5(INVS):c.178A>C (p.Arg60=) rs886038603
NM_014425.5(INVS):c.2568G>A (p.Arg856=) rs886038604
NM_014425.5(INVS):c.3182dup (p.Asn1061fs) rs760013326
NM_014425.5(INVS):c.615+13G>T rs761240492
NM_014425.5(INVS):c.849C>T (p.Ile283=) rs886038605

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