List of variants in gene CWC27 studied for bone development disease

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_005869.4(CWC27):c.766C>G (p.Pro256Ala)	rs7735338	0.36437
NM_005869.4(CWC27):c.749+16G>T	rs6449760	0.35252
NM_005869.4(CWC27):c.1108T>C (p.Leu370=)	rs2278351	0.27219
NM_005869.4(CWC27):c.495G>A (p.Glu165=)	rs1085307446	0.00003
NM_005869.4(CWC27):c.427C>T (p.Arg143Ter)	rs773382223	0.00001
NM_005869.4(CWC27):c.1002dup (p.Val335fs)	rs752159903
NM_005869.4(CWC27):c.1066_1070del (p.Ala356fs)	rs2112442370
NM_005869.4(CWC27):c.1209G>A (p.Thr403=)	rs1309581
NM_005869.4(CWC27):c.397-1G>A	rs2112169750
NM_005869.4(CWC27):c.600-21del	rs11340181
NM_005869.4(CWC27):c.617C>A (p.Ser206Ter)	rs781702398
NM_005869.4(CWC27):c.669+1G>A
NM_005869.4(CWC27):c.943G>T (p.Glu315Ter)	rs1085307447

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