ClinVar Miner

List of variants in gene INVS reported as pathogenic by OMIM

Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 5
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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.1807C>T (p.Arg603Ter) rs121964994 0.00001
NM_014425.5(INVS):c.1478T>C (p.Leu493Ser) rs121964995
NM_014425.5(INVS):c.2719C>T (p.Arg907Ter) rs267607185

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