ClinVar Miner

List of variants studied for autosomal recessive osteopetrosis 4 by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001287.6(CLCN7):c.141+19C>G rs547168471 0.00082
NM_001287.6(CLCN7):c.2240C>T (p.Thr747Met) rs201810925 0.00023
NM_001287.6(CLCN7):c.812G>A (p.Arg271Gln) rs541169535 0.00008
NM_001287.6(CLCN7):c.871G>A (p.Ala291Thr) rs923808258 0.00003
NM_001287.6(CLCN7):c.1797+4C>T rs200682842
NM_001287.6(CLCN7):c.1883+1G>A

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