ClinVar Miner

List of variants in gene KIF7, LOC126862216 studied for autosomal recessive disease

Included ClinVar conditions (1198):
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_198525.3(KIF7):c.3517+6C>T rs74251725 0.25419
NM_198525.3(KIF7):c.3319-30A>C rs72750748 0.24857
NM_198525.3(KIF7):c.3326C>T (p.Thr1109Met) rs189960711 0.00001
NM_198525.3(KIF7):c.3345C>G (p.His1115Gln) rs142032413
NM_198525.3(KIF7):c.3431G>T (p.Arg1144Leu) rs756521084

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