List of variants in gene CLCN7 reported as likely pathogenic for bone remodeling disease

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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: 15

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HGVS	dbSNP	gnomAD frequency
NM_001287.6(CLCN7):c.1681C>T (p.Arg561Trp)	rs2038701489	0.00001
NM_001287.6(CLCN7):c.739-18G>A	rs371893553	0.00001
NM_001287.6(CLCN7):c.856C>T (p.Arg286Trp)	rs1291061962	0.00001
NM_001287.6(CLCN7):c.1077C>A (p.Asn359Lys)	rs2142378398
NM_001287.6(CLCN7):c.1125C>G (p.Ile375Met)	rs1410701535
NM_001287.6(CLCN7):c.1304C>T (p.Ser435Leu)
NM_001287.6(CLCN7):c.1448-2A>G
NM_001287.6(CLCN7):c.1638del (p.Lys546fs)	rs2142368980
NM_001287.6(CLCN7):c.1682G>A (p.Arg561Gln)	rs757788894
NM_001287.6(CLCN7):c.1714del (p.Glu572fs)
NM_001287.6(CLCN7):c.1841T>G (p.Leu614Arg)	rs1064794323
NM_001287.6(CLCN7):c.2332G>T (p.Val778Phe)	rs1172932679
NM_001287.6(CLCN7):c.296A>G (p.Tyr99Cys)	rs387907576
NM_001287.6(CLCN7):c.839G>A (p.Arg280His)	rs1163577336
NM_001287.6(CLCN7):c.994A>G (p.Met332Val)	rs2142378539

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