ClinVar Miner

List of variants in gene FRMD7 reported as benign for ocular motility disease

Included ClinVar conditions (160):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 12
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HGVS dbSNP gnomAD frequency
NM_194277.3(FRMD7):c.*665A>T rs3764771 0.32838
NM_194277.3(FRMD7):c.1533T>C (p.Ile511=) rs5977623 0.32355
NM_194277.3(FRMD7):c.*816G>A rs41312755 0.09070
NM_194277.3(FRMD7):c.1101T>C (p.Asn367=) rs7051368 0.08904
NM_194277.3(FRMD7):c.69C>T (p.Ser23=) rs5930546 0.08423
NM_194277.3(FRMD7):c.842C>T (p.Ser281Leu) rs5977625 0.06625
NM_194277.3(FRMD7):c.1403G>A (p.Arg468His) rs6637934 0.05794
NM_194277.3(FRMD7):c.383-11C>T rs56029310 0.02920
NM_194277.3(FRMD7):c.*434C>T rs5975315 0.02249
NM_194277.3(FRMD7):c.1558C>G (p.His520Asp) rs61742429 0.00645
NM_194277.3(FRMD7):c.1473G>T (p.Met491Ile) rs181962233 0.00249
NM_194277.3(FRMD7):c.284+10T>G rs6634867 0.00027

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