ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 10
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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.913G>A (p.Val305Ile) rs116438342 0.00140
NM_014425.5(INVS):c.1704G>A (p.Gly568=) rs114645869 0.00073
NM_014425.5(INVS):c.1980A>G (p.Gly660=) rs139314036 0.00001

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