List of variants in gene CHRND reported as uncertain significance by Eurofins NTD LLC (GA)

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
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_000751.3(CHRND):c.1530C>T (p.Asn510=)	rs114463490	0.00175
NM_000751.3(CHRND):c.919C>T (p.Pro307Ser)	rs142063328	0.00089
NM_000751.3(CHRND):c.727C>T (p.Arg243Cys)	rs201733876	0.00042
NM_000751.3(CHRND):c.44C>T (p.Ala15Val)	rs142531974	0.00036
NM_000751.3(CHRND):c.1066C>T (p.Pro356Ser)	rs147050939	0.00035
NM_000751.3(CHRND):c.933-9T>C	rs199592458	0.00031
NM_000751.3(CHRND):c.805T>C (p.Tyr269His)	rs141627135	0.00025
NM_000751.3(CHRND):c.1125G>A (p.Val375=)	rs143246852	0.00010
NM_000751.3(CHRND):c.1127G>A (p.Arg376Gln)	rs749866545	0.00006
NM_000751.3(CHRND):c.1220G>A (p.Arg407Gln)	rs563035306	0.00003
NM_000751.3(CHRND):c.1446G>A (p.Val482=)	rs1352698710	0.00001
NM_000751.3(CHRND):c.244G>A (p.Gly82Ser)	rs794727630	0.00001
NM_000751.3(CHRND):c.962C>T (p.Thr321Ile)	rs776316455	0.00001
NM_000751.3(CHRND):c.1104A>G (p.Gly368=)	rs794726984
NM_000751.3(CHRND):c.497C>T (p.Ser166Phe)	rs528286132
NM_000751.3(CHRND):c.654C>G (p.Ala218=)	rs886044061

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