List of variants in gene CBS reported as uncertain significance for not provided

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: 85

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HGVS	dbSNP	gnomAD frequency
NM_000071.3(CBS):c.1080C>T (p.Ala360=)	rs1801181	0.30942
NM_000071.3(CBS):c.*123C>G	rs1051319	0.21968
NM_000071.3(CBS):c.*540G>A	rs111386779	0.01634
NM_000071.3(CBS):c.1105C>T (p.Arg369Cys)	rs117687681	0.00255
NM_000071.3(CBS):c.215A>T (p.Lys72Ile)	rs192232907	0.00056
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.5C>T (p.Pro2Leu)	rs546530618	0.00019
NM_000071.3(CBS):c.1072G>A (p.Val358Met)	rs148589243	0.00013
NM_000071.3(CBS):c.133C>T (p.Arg45Trp)	rs201372812	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.1315C>T (p.Arg439Trp)	rs780508029	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.610G>A (p.Val204Met)	rs372679328	0.00006
NM_000071.3(CBS):c.65A>G (p.His22Arg)	rs763151207	0.00006
NM_000071.3(CBS):c.954+7C>T	rs554429567	0.00006
NM_000071.3(CBS):c.953C>T (p.Thr318Met)	rs769541394	0.00005
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.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.2T>C (p.Met1Thr)	rs769766030	0.00003
NM_000071.3(CBS):c.435G>A (p.Pro145=)	rs148782895	0.00003
NM_000071.3(CBS):c.616G>A (p.Val206Met)	rs369220569	0.00003
NM_000071.3(CBS):c.1342G>A (p.Val448Met)	rs865989946	0.00002
NM_000071.3(CBS):c.301C>G (p.Leu101Val)	rs369644531	0.00002
NM_000071.3(CBS):c.599C>T (p.Pro200Leu)	rs758712880	0.00002
NM_000071.3(CBS):c.637G>A (p.Glu213Lys)	rs758703098	0.00002
NM_000071.3(CBS):c.1005C>T (p.Ala335=)	rs753731849	0.00001
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.1600G>A (p.Val534Ile)	rs779569366	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.676G>C (p.Ala226Pro)	rs763835246	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.1009A>C (p.Met337Leu)	rs372822486
NM_000071.3(CBS):c.1064C>T (p.Ala355Val)	rs772384826
NM_000071.3(CBS):c.1114G>T (p.Val372Phe)	rs775354680
NM_000071.3(CBS):c.112G>A (p.Ala38Thr)	rs1064795253
NM_000071.3(CBS):c.1166G>C (p.Arg389Thr)	rs1383178636
NM_000071.3(CBS):c.1208C>T (p.Thr403Met)	rs886042297
NM_000071.3(CBS):c.1213AAG[1] (p.Lys406del)	rs780555741
NM_000071.3(CBS):c.1265C>T (p.Pro422Leu)	rs28934892
NM_000071.3(CBS):c.1310T>C (p.Ile437Thr)	rs2146341072
NM_000071.3(CBS):c.1513A>G (p.Met505Val)	rs2146328317
NM_000071.3(CBS):c.1526C>T (p.Ala509Val)	rs794727161
NM_000071.3(CBS):c.1527C>T (p.Ala509=)	rs794727162
NM_000071.3(CBS):c.1539C>G (p.His513Gln)	rs187828882
NM_000071.3(CBS):c.1579C>T (p.Arg527Trp)	rs1455031864
NM_000071.3(CBS):c.170G>A (p.Gly57Asp)	rs1295461215
NM_000071.3(CBS):c.266T>A (p.Met89Lys)	rs772450760
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.452G>T (p.Gly151Val)	rs2146388335
NM_000071.3(CBS):c.469G>A (p.Ala157Thr)	rs199817801
NM_000071.3(CBS):c.474G>C (p.Ala158=)	rs189362155
NM_000071.3(CBS):c.488A>G (p.Tyr163Cys)	rs2146387804
NM_000071.3(CBS):c.502G>A (p.Val168Met)	rs121964970
NM_000071.3(CBS):c.531G>C (p.Lys177Asn)	rs1064795022
NM_000071.3(CBS):c.536_553del (p.Asp179_Leu184del)	rs794727835
NM_000071.3(CBS):c.580A>G (p.Asn194Asp)	rs370089875
NM_000071.3(CBS):c.599C>G (p.Pro200Arg)
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.667-10_667-7del	rs376011228
NM_000071.3(CBS):c.750G>A (p.Met250Ile)	rs863223431
NM_000071.3(CBS):c.904G>A (p.Glu302Lys)	rs779270933
NM_000071.3(CBS):c.992C>T (p.Ala331Val)	rs777919630

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