List of variants in gene CKMT1B reported as uncertain significance by Ambry Genetics

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: 17

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HGVS	dbSNP	gnomAD frequency
NM_001375484.1(CKMT1B):c.824A>G (p.Lys275Arg)	rs149230297	0.00048
NM_001375484.1(CKMT1B):c.1162G>A (p.Asp388Asn)	rs545090495	0.00006
NM_001375484.1(CKMT1B):c.1220G>A (p.Arg407His)	rs530044813	0.00005
NM_001375484.1(CKMT1B):c.805C>T (p.Arg269Trp)	rs749828844	0.00004
NM_001375484.1(CKMT1B):c.1121G>A (p.Arg374Gln)	rs757398292	0.00003
NM_001375484.1(CKMT1B):c.1015A>G (p.Ser339Gly)
NM_001375484.1(CKMT1B):c.1024C>T (p.Pro342Ser)
NM_001375484.1(CKMT1B):c.1055A>C (p.Lys352Thr)
NM_001375484.1(CKMT1B):c.1097T>C (p.Val366Ala)
NM_001375484.1(CKMT1B):c.1106T>G (p.Ile369Ser)	rs2507566561
NM_001375484.1(CKMT1B):c.1162G>T (p.Asp388Tyr)
NM_001375484.1(CKMT1B):c.1217T>G (p.Ile406Ser)
NM_001375484.1(CKMT1B):c.721G>T (p.Ala241Ser)	rs747668618
NM_001375484.1(CKMT1B):c.742C>T (p.Arg248Cys)	rs766693799
NM_001375484.1(CKMT1B):c.830G>A (p.Gly277Asp)	rs2507548256
NM_001375484.1(CKMT1B):c.877G>A (p.Val293Met)
NM_001375484.1(CKMT1B):c.925C>T (p.Arg309Cys)

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