List of variants in gene CLCN7 reported as uncertain significance for autosomal recessive osteopetrosis 4

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 16

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HGVS	dbSNP	gnomAD frequency
NM_001287.6(CLCN7):c.2240C>T (p.Thr747Met)	rs201810925	0.00023
NM_001287.6(CLCN7):c.2073+4C>T	rs768190489	0.00010
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.1534G>A (p.Gly512Arg)	rs763164345	0.00001
NM_001287.6(CLCN7):c.641A>G (p.Asn214Ser)	rs367567630	0.00001
NM_001287.6(CLCN7):c.913G>A (p.Val305Met)	rs558354107	0.00001
NM_001287.6(CLCN7):c.1165G>A (p.Gly389Arg)	rs1555465003
NM_001287.6(CLCN7):c.1208G>A (p.Arg403Gln)	rs765444328
NM_001287.6(CLCN7):c.1637A>G (p.Lys546Arg)	rs2505816613
NM_001287.6(CLCN7):c.1797+4C>T	rs200682842
NM_001287.6(CLCN7):c.1810A>G (p.Met604Val)
NM_001287.6(CLCN7):c.202C>T (p.Leu68Phe)	rs926749321
NM_001287.6(CLCN7):c.436_438del (p.Ile146del)	rs2505845500
NM_001287.6(CLCN7):c.608G>A (p.Gly203Asp)	rs2505840413
NM_001287.6(CLCN7):c.629A>G (p.Lys210Arg)	rs2505840341

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