List of variants in gene CBS reported by Baylor Genetics

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: 98

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HGVS	dbSNP	gnomAD frequency
NM_000071.3(CBS):c.833T>C (p.Ile278Thr)	rs5742905	0.00083
NM_000071.3(CBS):c.1330G>A (p.Asp444Asn)	rs28934891	0.00026
NM_000071.3(CBS):c.919G>A (p.Gly307Ser)	rs121964962	0.00025
NM_000071.3(CBS):c.146C>T (p.Pro49Leu)	rs148865119	0.00013
NM_000071.3(CBS):c.362G>A (p.Arg121His)	rs770095972	0.00010
NM_000071.3(CBS):c.700G>A (p.Asp234Asn)	rs773734233	0.00010
NM_000071.3(CBS):c.770C>T (p.Thr257Met)	rs758236584	0.00010
NM_000071.3(CBS):c.1224-2A>C	rs375846341	0.00008
NM_000071.3(CBS):c.572C>T (p.Thr191Met)	rs121964973	0.00006
NM_000071.3(CBS):c.1499C>T (p.Ser500Leu)	rs755106884	0.00004
NM_000071.3(CBS):c.341C>T (p.Ala114Val)	rs121964964	0.00004
NM_000071.3(CBS):c.451G>A (p.Gly151Arg)	rs373782713	0.00004
NM_000071.3(CBS):c.1039G>A (p.Gly347Ser)	rs771298943	0.00003
NM_000071.3(CBS):c.1058C>T (p.Thr353Met)	rs121964972	0.00003
NM_000071.3(CBS):c.1135C>T (p.Arg379Trp)	rs769080151	0.00003
NM_000071.3(CBS):c.1280C>T (p.Pro427Leu)	rs863223434	0.00003
NM_000071.3(CBS):c.374G>A (p.Arg125Gln)	rs781444670	0.00003
NM_000071.3(CBS):c.737-1G>C	rs757428597	0.00003
NM_000071.3(CBS):c.775G>A (p.Gly259Ser)	rs143124288	0.00003
NM_000071.3(CBS):c.785C>T (p.Thr262Met)	rs149119723	0.00003
NM_000071.3(CBS):c.1006C>T (p.Arg336Cys)	rs398123151	0.00002
NM_000071.3(CBS):c.325T>C (p.Cys109Arg)	rs778220779	0.00002
NM_000071.3(CBS):c.361C>T (p.Arg121Cys)	rs775992753	0.00002
NM_000071.3(CBS):c.430G>A (p.Glu144Lys)	rs121964966	0.00002
NM_000071.3(CBS):c.689del (p.Leu230fs)	rs775351239	0.00002
NM_000071.3(CBS):c.959T>C (p.Val320Ala)	rs781567152	0.00002
NM_000071.3(CBS):c.1007G>A (p.Arg336His)	rs760417941	0.00001
NM_000071.3(CBS):c.1081G>A (p.Ala361Thr)	rs745764562	0.00001
NM_000071.3(CBS):c.1109G>A (p.Cys370Tyr)	rs757920190	0.00001
NM_000071.3(CBS):c.1111G>A (p.Val371Met)	rs372010465	0.00001
NM_000071.3(CBS):c.1136G>A (p.Arg379Gln)	rs763036586	0.00001
NM_000071.3(CBS):c.1397C>T (p.Ser466Leu)	rs121964971	0.00001
NM_000071.3(CBS):c.373C>T (p.Arg125Trp)	rs886057100	0.00001
NM_000071.3(CBS):c.442G>A (p.Gly148Arg)	rs755952006	0.00001
NM_000071.3(CBS):c.494G>A (p.Cys165Tyr)	rs1347651454	0.00001
NM_000071.3(CBS):c.797G>A (p.Arg266Lys)	rs121964969	0.00001
NM_000071.3(CBS):c.828+1G>A	rs763290176	0.00001
NM_000071.3(CBS):c.1039+2T>C
NM_000071.3(CBS):c.1040-2A>G
NM_000071.3(CBS):c.1126G>A (p.Asp376Asn)	rs1170128038
NM_000071.3(CBS):c.1145+1G>A
NM_000071.3(CBS):c.1152G>C (p.Lys384Asn)	rs1304669003
NM_000071.3(CBS):c.1218del (p.Lys406fs)	rs794727083
NM_000071.3(CBS):c.1259C>A (p.Ser420Ter)
NM_000071.3(CBS):c.1318G>T (p.Glu440Ter)
NM_000071.3(CBS):c.1358+2T>A
NM_000071.3(CBS):c.1359-2A>T
NM_000071.3(CBS):c.1397C>A (p.Ser466Ter)	rs121964971
NM_000071.3(CBS):c.1456C>T (p.Gln486Ter)
NM_000071.3(CBS):c.1468-1G>A	rs1057516895
NM_000071.3(CBS):c.1552+1G>A	rs1434118781
NM_000071.3(CBS):c.1566del (p.Lys523fs)	rs786204466
NM_000071.3(CBS):c.19del (p.Gln7fs)	rs748695461
NM_000071.3(CBS):c.19dup (p.Gln7fs)	rs748695461
NM_000071.3(CBS):c.209+1G>A	rs751464024
NM_000071.3(CBS):c.209+1G>T
NM_000071.3(CBS):c.209dup (p.Ala71fs)
NM_000071.3(CBS):c.210-1G>C	rs2146414477
NM_000071.3(CBS):c.253G>A (p.Gly85Arg)	rs863223435
NM_000071.3(CBS):c.262C>T (p.Pro88Ser)	rs2146413970
NM_000071.3(CBS):c.284T>C (p.Ile95Thr)	rs1347662650
NM_000071.3(CBS):c.302T>C (p.Leu101Pro)	rs786204757
NM_000071.3(CBS):c.323del (p.Lys108fs)
NM_000071.3(CBS):c.346G>A (p.Gly116Arg)	rs760214620
NM_000071.3(CBS):c.353_362del (p.Val118fs)
NM_000071.3(CBS):c.402del (p.Thr135fs)	rs1057517083
NM_000071.3(CBS):c.407T>C (p.Leu136Pro)
NM_000071.3(CBS):c.434C>T (p.Pro145Leu)	rs121964963
NM_000071.3(CBS):c.457G>A (p.Gly153Arg)	rs745704046
NM_000071.3(CBS):c.481del (p.Arg161fs)	rs2146387904
NM_000071.3(CBS):c.502G>A (p.Val168Met)	rs121964970
NM_000071.3(CBS):c.536_553del (p.Asp179_Leu184del)	rs794727835
NM_000071.3(CBS):c.580_599del (p.Asn194fs)
NM_000071.3(CBS):c.667-14_667-7del	rs764160782
NM_000071.3(CBS):c.676G>A (p.Ala226Thr)	rs763835246
NM_000071.3(CBS):c.683A>G (p.Asn228Ser)	rs1555874803
NM_000071.3(CBS):c.684C>A (p.Asn228Lys)	rs1464223176
NM_000071.3(CBS):c.689T>A (p.Leu230Gln)
NM_000071.3(CBS):c.694C>G (p.His232Asp)
NM_000071.3(CBS):c.727C>T (p.Gln243Ter)
NM_000071.3(CBS):c.732_733del (p.Cys244_Asp245delinsTer)
NM_000071.3(CBS):c.736_736+8del
NM_000071.3(CBS):c.738del	rs766453711
NM_000071.3(CBS):c.752T>C (p.Leu251Pro)	rs1176770868
NM_000071.3(CBS):c.796A>G (p.Arg266Gly)
NM_000071.3(CBS):c.808_810del (p.Glu270del)	rs760710691
NM_000071.3(CBS):c.816T>A (p.Cys272Ter)	rs528689432
NM_000071.3(CBS):c.829-1G>C	rs1555874263
NM_000071.3(CBS):c.862G>A (p.Ala288Thr)	rs141502207
NM_000071.3(CBS):c.889G>T (p.Glu297Ter)
NM_000071.3(CBS):c.904G>A (p.Glu302Lys)	rs779270933
NM_000071.3(CBS):c.913G>A (p.Gly305Arg)
NM_000071.3(CBS):c.954+1G>A	rs1057517373
NM_000071.3(CBS):c.969G>A (p.Trp323Ter)	rs863223432
NM_000071.3(CBS):c.978del (p.Ser326fs)
NM_000071.3(CBS):c.98del (p.Pro33fs)	rs2146428203
NM_000071.3(CBS):c.992C>A (p.Ala331Glu)	rs777919630
NM_000071.3(CBS):c.992C>T (p.Ala331Val)	rs777919630

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