ClinVar Miner

List of variants reported as benign for autosomal recessive osteopetrosis 4

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 11
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HGVS dbSNP gnomAD frequency
NM_001287.6(CLCN7):c.485-39A>C rs2072950 0.73095
NM_001287.6(CLCN7):c.285+52C>A rs2744994 0.60500
NM_001287.6(CLCN7):c.126T>C (p.Pro42=) rs3751884 0.59955
NM_001287.6(CLCN7):c.1884-35T>C rs12597739 0.53608
NM_001287.6(CLCN7):c.1170A>T (p.Ala390=) rs2235579 0.51407
NM_001287.6(CLCN7):c.981+133G>A rs7190701 0.48855
NM_001287.6(CLCN7):c.2251-50G>A rs12599176 0.41216
NM_001287.6(CLCN7):c.1618-49G>A rs742408 0.36776
NM_001287.6(CLCN7):c.676-85G>A rs8061743 0.20005
NM_001287.6(CLCN7):c.1448-43dup rs61073146
NM_001287.6(CLCN7):c.676-86C>G rs8060503

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