List of variants in gene CBS reported as uncertain significance by Natera, Inc.

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: 96

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HGVS	dbSNP	gnomAD frequency
NM_000071.3(CBS):c.1105C>T (p.Arg369Cys)	rs117687681	0.00255
NM_000071.3(CBS):c.394C>T (p.Arg132Cys)	rs140002610	0.00038
NM_000071.3(CBS):c.1273G>A (p.Val425Met)	rs138211175	0.00022
NM_000071.3(CBS):c.856A>G (p.Ile286Val)	rs147040567	0.00020
NM_000071.3(CBS):c.397G>A (p.Asp133Asn)	rs539326697	0.00019
NM_000071.3(CBS):c.1072G>A (p.Val358Met)	rs148589243	0.00013
NM_000071.3(CBS):c.670C>T (p.Arg224Cys)	rs139456571	0.00013
NM_000071.3(CBS):c.1642C>T (p.Arg548Trp)	rs766444814	0.00012
NM_000071.3(CBS):c.221C>T (p.Pro74Leu)	rs762862715	0.00011
NM_000071.3(CBS):c.1223+5G>A	rs372609349	0.00010
NM_000071.3(CBS):c.404C>T (p.Thr135Met)	rs144832032	0.00009
NM_000071.3(CBS):c.134G>A (p.Arg45Gln)	rs759502207	0.00008
NM_000071.3(CBS):c.400G>A (p.Gly134Arg)	rs147474549	0.00008
NM_000071.3(CBS):c.847G>A (p.Glu283Lys)	rs765811825	0.00008
NM_000071.3(CBS):c.1067T>C (p.Val356Ala)	rs370163789	0.00006
NM_000071.3(CBS):c.1161C>T (p.Ser387=)	rs149280976	0.00006
NM_000071.3(CBS):c.1315C>T (p.Arg439Trp)	rs780508029	0.00006
NM_000071.3(CBS):c.1379C>T (p.Thr460Met)	rs752596508	0.00006
NM_000071.3(CBS):c.1411G>A (p.Gly471Arg)	rs201098477	0.00006
NM_000071.3(CBS):c.1472G>A (p.Arg491His)	rs747419767	0.00006
NM_000071.3(CBS):c.1525G>A (p.Ala509Thr)	rs1060500680	0.00006
NM_000071.3(CBS):c.610G>A (p.Val204Met)	rs372679328	0.00006
NM_000071.3(CBS):c.65A>G (p.His22Arg)	rs763151207	0.00006
NM_000071.3(CBS):c.1468-6T>G	rs771250766	0.00005
NM_000071.3(CBS):c.1564G>A (p.Gly522Arg)	rs201916339	0.00005
NM_000071.3(CBS):c.953C>T (p.Thr318Met)	rs769541394	0.00005
NM_000071.3(CBS):c.1281G>A (p.Pro427=)	rs563330591	0.00004
NM_000071.3(CBS):c.1512G>A (p.Glu504=)	rs149170219	0.00004
NM_000071.3(CBS):c.71C>T (p.Ala24Val)	rs759682004	0.00004
NM_000071.3(CBS):c.1009A>G (p.Met337Val)	rs372822486	0.00003
NM_000071.3(CBS):c.1106G>A (p.Arg369His)	rs11700812	0.00003
NM_000071.3(CBS):c.1205T>C (p.Leu402Pro)	rs371214833	0.00003
NM_000071.3(CBS):c.1316G>A (p.Arg439Gln)	rs756467921	0.00003
NM_000071.3(CBS):c.1484C>T (p.Thr495Met)	rs772344567	0.00003
NM_000071.3(CBS):c.152G>A (p.Arg51Lys)	rs370983323	0.00003
NM_000071.3(CBS):c.1594G>A (p.Gly532Arg)	rs748953468	0.00003
NM_000071.3(CBS):c.538G>A (p.Val180Met)	rs759402521	0.00003
NM_000071.3(CBS):c.588G>C (p.Arg196Ser)	rs555751528	0.00003
NM_000071.3(CBS):c.616G>A (p.Val206Met)	rs369220569	0.00003
NM_000071.3(CBS):c.791T>C (p.Ile264Thr)	rs760212248	0.00003
NM_000071.3(CBS):c.1337C>T (p.Ala446Val)	rs757347527	0.00002
NM_000071.3(CBS):c.1342G>A (p.Val448Met)	rs865989946	0.00002
NM_000071.3(CBS):c.545G>A (p.Arg182Gln)	rs138314784	0.00002
NM_000071.3(CBS):c.921C>G (p.Gly307=)	rs147875876	0.00002
NM_000071.3(CBS):c.925G>A (p.Asp309Asn)	rs540013184	0.00002
NM_000071.3(CBS):c.1019C>T (p.Ala340Val)	rs1282760211	0.00001
NM_000071.3(CBS):c.1070C>G (p.Ala357Gly)	rs863223437	0.00001
NM_000071.3(CBS):c.1353G>C (p.Glu451Asp)	rs367962613	0.00001
NM_000071.3(CBS):c.1478C>T (p.Thr493Met)	rs996249907	0.00001
NM_000071.3(CBS):c.1551G>A (p.Gln517=)	rs750311684	0.00001
NM_000071.3(CBS):c.210-3C>T	rs562656023	0.00001
NM_000071.3(CBS):c.395G>A (p.Arg132His)	rs779011920	0.00001
NM_000071.3(CBS):c.401G>C (p.Gly134Ala)	rs766958673	0.00001
NM_000071.3(CBS):c.422C>T (p.Thr141Met)	rs771178320	0.00001
NM_000071.3(CBS):c.548C>T (p.Ala183Val)	rs374464810	0.00001
NM_000071.3(CBS):c.632A>G (p.Lys211Arg)	rs201118737	0.00001
NM_000071.3(CBS):c.68C>T (p.Ser23Leu)	rs775785018	0.00001
NM_000071.3(CBS):c.736+5G>A	rs750518463	0.00001
NM_000071.3(CBS):c.982G>A (p.Asp328Asn)	rs758447354	0.00001
NM_000071.3(CBS):c.1007G>C (p.Arg336Pro)	rs760417941
NM_000071.3(CBS):c.1009A>C (p.Met337Leu)	rs372822486
NM_000071.3(CBS):c.1071C>T (p.Ala357=)	rs368206976
NM_000071.3(CBS):c.1114G>A (p.Val372Ile)	rs775354680
NM_000071.3(CBS):c.1114G>T (p.Val372Phe)	rs775354680
NM_000071.3(CBS):c.1146-6C>T	rs1981696579
NM_000071.3(CBS):c.1213AAG[1] (p.Lys406del)	rs780555741
NM_000071.3(CBS):c.1237C>T (p.Arg413Cys)	rs767595472
NM_000071.3(CBS):c.1265C>T (p.Pro422Leu)	rs28934892
NM_000071.3(CBS):c.1358G>A (p.Gly453Glu)	rs886039146
NM_000071.3(CBS):c.1436T>C (p.Val479Ala)	rs886038933
NM_000071.3(CBS):c.1467+4C>T	rs1981503515
NM_000071.3(CBS):c.1580G>A (p.Arg527Gln)	rs551198487
NM_000071.3(CBS):c.1656A>C (p.Ter552Cys)	rs1365095601
NM_000071.3(CBS):c.170G>A (p.Gly57Asp)	rs1295461215
NM_000071.3(CBS):c.179C>T (p.Ala60Val)	rs765352771
NM_000071.3(CBS):c.359A>G (p.Asp120Gly)	rs1982750491
NM_000071.3(CBS):c.381T>G (p.Ile127Met)	rs199824647
NM_000071.3(CBS):c.394C>A (p.Arg132Ser)	rs140002610
NM_000071.3(CBS):c.400G>C (p.Gly134Arg)	rs147474549
NM_000071.3(CBS):c.430G>C (p.Glu144Gln)	rs121964966
NM_000071.3(CBS):c.450C>T (p.Thr150=)	rs750030593
NM_000071.3(CBS):c.469G>A (p.Ala157Thr)	rs199817801
NM_000071.3(CBS):c.493T>G (p.Cys165Gly)	rs1234354755
NM_000071.3(CBS):c.502G>A (p.Val168Met)	rs121964970
NM_000071.3(CBS):c.622T>C (p.Trp208Arg)	rs1060500683
NM_000071.3(CBS):c.636C>G (p.Asn212Lys)	rs2298758
NM_000071.3(CBS):c.710C>T (p.Ala237Val)	rs1568931765
NM_000071.3(CBS):c.741G>C (p.Lys247Asn)	rs746892057
NM_000071.3(CBS):c.745G>A (p.Asp249Asn)	rs767397847
NM_000071.3(CBS):c.750G>A (p.Met250Ile)	rs863223431
NM_000071.3(CBS):c.763G>C (p.Val255Leu)	rs1982371715
NM_000071.3(CBS):c.825C>T (p.Cys275=)	rs764638041
NM_000071.3(CBS):c.829-8C>G	rs750081937
NM_000071.3(CBS):c.862G>T (p.Ala288Ser)	rs141502207
NM_000071.3(CBS):c.887C>T (p.Thr296Met)	rs562530775
NM_000071.3(CBS):c.954G>A (p.Thr318=)	rs776122644

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