ClinVar Miner

List of variants in gene INVS reported as likely benign for Infantile nephronophthisis

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Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_014425.5(INVS):c.616-19T>C rs78038572 0.01891
NM_014425.5(INVS):c.-155C>T rs62577237 0.00805
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.-17C>T rs181463817 0.00194
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.1785-20T>G rs200028895 0.00018
NM_014425.5(INVS):c.2685C>T (p.Pro895=) rs371932940 0.00011
NM_014425.5(INVS):c.1465-15T>G rs772436028 0.00004
NM_014425.5(INVS):c.2307G>A (p.Pro769=) rs140706545 0.00004
NM_014425.5(INVS):c.1671C>T (p.Ile557=) rs770524429 0.00001
NM_014425.5(INVS):c.2394C>G (p.Leu798=) rs751531097 0.00001
NM_014425.5(INVS):c.3027C>T (p.His1009=) rs201136636 0.00001
NM_014425.5(INVS):c.867A>C (p.Gly289=) rs1227795087 0.00001
NM_014425.5(INVS):c.1638C>T (p.His546=) rs758665047
NM_014425.5(INVS):c.2582G>C (p.Arg861Thr) rs760537423
NM_014425.5(INVS):c.448-19G>T rs760646531
NM_014425.5(INVS):c.849C>T (p.Ile283=) rs886038605

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