ClinVar Miner

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

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
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.1464+1G>T rs375753623
NM_014425.5(INVS):c.2097_2098del (p.Gln699fs) rs1564193130
NM_014425.5(INVS):c.2509C>T (p.Gln837Ter) rs755549444
NM_014425.5(INVS):c.662dup (p.Arg222fs) rs769739938

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