ClinVar Miner

List of variants reported as not provided for autosomal recessive osteopetrosis

Included ClinVar conditions (14):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_001287.6(CLCN7):c.1252G>A (p.Val418Met) rs12926089 0.11417
NM_006019.4(TCIRG1):c.1249G>A (p.Ala417Thr) rs140963213 0.00275
NM_003701.4(TNFSF11):c.92A>T (p.His31Leu) rs1471498841 0.00001
NM_001287.6(CLCN7):c.2299C>T (p.Arg767Trp) rs121434435
NM_001287.6(CLCN7):c.296A>G (p.Tyr99Cys) rs387907576
NM_003701.4(TNFSF11):c.2T>G (p.Met1Arg) rs201199211
NM_031471.6(FERMT3):c.507G>C (p.Leu169Phe) rs1946427260

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