List of variants in gene MMAB reported as likely benign for inborn disorder of amino acid metabolism

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: 177

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HGVS	dbSNP	gnomAD frequency
NM_052845.4(MMAB):c.584+24A>G	rs78599682	0.07555
NM_052845.4(MMAB):c.*1409G>A	rs72650177	0.05424
NM_052845.4(MMAB):c.*368T>A	rs773284148	0.05411
NM_052845.4(MMAB):c.*2186T>C	rs147647465	0.00246
NM_052845.4(MMAB):c.*404T>G	rs148289390	0.00240
NM_052845.4(MMAB):c.624C>T (p.Asn208=)	rs146687452	0.00146
NM_052845.4(MMAB):c.620C>T (p.Ala207Val)	rs61739388	0.00048
NM_052845.4(MMAB):c.206G>A (p.Ser69Asn)	rs147297426	0.00032
NM_052845.4(MMAB):c.333C>T (p.Ala111=)	rs769385276	0.00021
NM_052845.4(MMAB):c.678T>C (p.Tyr226=)	rs111678627	0.00014
NM_052845.4(MMAB):c.666G>A (p.Thr222=)	rs369296142	0.00011
NM_052845.4(MMAB):c.387G>A (p.Ala129=)	rs549807022	0.00009
NM_052845.4(MMAB):c.561C>T (p.Ala187=)	rs370773720	0.00009
NM_052845.4(MMAB):c.584+15G>A	rs750655720	0.00008
NM_052845.4(MMAB):c.644+7G>A	rs147637814	0.00008
NM_052845.4(MMAB):c.150G>A (p.Ser50=)	rs754357121	0.00006
NM_052845.4(MMAB):c.665C>T (p.Thr222Met)	rs142070439	0.00005
NM_052845.4(MMAB):c.168C>G (p.Pro56=)	rs752857938	0.00004
NM_052845.4(MMAB):c.348+17C>T	rs202141416	0.00004
NM_052845.4(MMAB):c.349-9G>A	rs372577644	0.00004
NM_052845.4(MMAB):c.402G>A (p.Ser134=)	rs756766385	0.00004
NM_052845.4(MMAB):c.471C>T (p.Ile157=)	rs369581051	0.00004
NM_052845.4(MMAB):c.507C>T (p.Ala169=)	rs776916498	0.00003
NM_052845.4(MMAB):c.644+9G>A	rs748589454	0.00003
NM_052845.4(MMAB):c.732G>A (p.Ser244=)	rs186864802	0.00003
NM_052845.4(MMAB):c.298C>T (p.Leu100=)	rs751553040	0.00002
NM_052845.4(MMAB):c.372C>T (p.Val124=)	rs371092213	0.00002
NM_052845.4(MMAB):c.618T>C (p.Asp206=)	rs1461731163	0.00002
NM_052845.4(MMAB):c.644+8C>T	rs770159367	0.00002
NM_052845.4(MMAB):c.645-6C>T	rs766039550	0.00002
NM_052845.4(MMAB):c.135-4T>C	rs1025409144	0.00001
NM_052845.4(MMAB):c.255C>T (p.Ala85=)	rs894225131	0.00001
NM_052845.4(MMAB):c.348+10_348+13del	rs775340018	0.00001
NM_052845.4(MMAB):c.348+7A>G	rs769138883	0.00001
NM_052845.4(MMAB):c.348+9C>T	rs747459155	0.00001
NM_052845.4(MMAB):c.349-10C>T	rs896742047	0.00001
NM_052845.4(MMAB):c.360A>G (p.Thr120=)	rs1393235772	0.00001
NM_052845.4(MMAB):c.369C>T (p.Asp123=)	rs1055749855	0.00001
NM_052845.4(MMAB):c.422-6C>T	rs759110803	0.00001
NM_052845.4(MMAB):c.423G>A (p.Lys141=)	rs1474862262	0.00001
NM_052845.4(MMAB):c.432G>C (p.Thr144=)	rs200127370	0.00001
NM_052845.4(MMAB):c.451C>T (p.Leu151=)	rs1884202824	0.00001
NM_052845.4(MMAB):c.456G>A (p.Glu152=)	rs1884202411	0.00001
NM_052845.4(MMAB):c.457C>T (p.Leu153=)	rs767045171	0.00001
NM_052845.4(MMAB):c.465G>A (p.Gln155=)	rs1323701026	0.00001
NM_052845.4(MMAB):c.516G>T (p.Leu172=)	rs914000089	0.00001
NM_052845.4(MMAB):c.522G>A (p.Ser174=)	rs545625368	0.00001
NM_052845.4(MMAB):c.525A>G (p.Gly175=)	rs138069953	0.00001
NM_052845.4(MMAB):c.540G>A (p.Ser180=)	rs754311573	0.00001
NM_052845.4(MMAB):c.543G>A (p.Ala181=)	rs145411521	0.00001
NM_052845.4(MMAB):c.615C>T (p.Thr205=)	rs760629956	0.00001
NM_052845.4(MMAB):c.645-8C>G	rs1251570137	0.00001
NM_052845.4(MMAB):c.*1859TA[7]	rs10623308
NM_052845.4(MMAB):c.*1859TA[9]	rs10623308
NM_052845.4(MMAB):c.135-12A>T
NM_052845.4(MMAB):c.135-19G>A
NM_052845.4(MMAB):c.135-8C>T	rs2136210870
NM_052845.4(MMAB):c.144T>G (p.Pro48=)	rs2136210832
NM_052845.4(MMAB):c.147C>T (p.Ser49=)
NM_052845.4(MMAB):c.165C>T (p.Ile55=)	rs2136210798
NM_052845.4(MMAB):c.177C>T (p.Tyr59=)	rs2136210789
NM_052845.4(MMAB):c.186G>A (p.Thr62=)
NM_052845.4(MMAB):c.186G>T (p.Thr62=)
NM_052845.4(MMAB):c.189A>G (p.Gly63=)	rs2136210776
NM_052845.4(MMAB):c.196+13C>G
NM_052845.4(MMAB):c.196+17T>G
NM_052845.4(MMAB):c.196+9G>A
NM_052845.4(MMAB):c.197-12T>C
NM_052845.4(MMAB):c.197-14A>G
NM_052845.4(MMAB):c.197-15C>A
NM_052845.4(MMAB):c.197-7T>C
NM_052845.4(MMAB):c.219A>G (p.Gly73=)
NM_052845.4(MMAB):c.222A>G (p.Glu74=)	rs1389815526
NM_052845.4(MMAB):c.225G>A (p.Arg75=)	rs267603297
NM_052845.4(MMAB):c.240C>T (p.Asp80=)
NM_052845.4(MMAB):c.243A>G (p.Gln81=)	rs1473011297
NM_052845.4(MMAB):c.255C>G (p.Ala85=)
NM_052845.4(MMAB):c.258G>A (p.Val86=)	rs2136208331
NM_052845.4(MMAB):c.290+12A>G
NM_052845.4(MMAB):c.290+19G>T
NM_052845.4(MMAB):c.290+7G>C
NM_052845.4(MMAB):c.290+8G>T
NM_052845.4(MMAB):c.291-15C>G
NM_052845.4(MMAB):c.291-18T>C
NM_052845.4(MMAB):c.291-3dup	rs2136203965
NM_052845.4(MMAB):c.291-5C>G
NM_052845.4(MMAB):c.294T>C (p.Phe98=)
NM_052845.4(MMAB):c.297T>C (p.Ala99=)	rs2136203950
NM_052845.4(MMAB):c.321C>A (p.Gly107=)
NM_052845.4(MMAB):c.330T>C (p.Phe110=)
NM_052845.4(MMAB):c.342T>A (p.Leu114=)	rs2136203863
NM_052845.4(MMAB):c.348+11C>T
NM_052845.4(MMAB):c.348+20C>G
NM_052845.4(MMAB):c.349-14C>G
NM_052845.4(MMAB):c.349-20C>T
NM_052845.4(MMAB):c.349-4C>G	rs2136199982
NM_052845.4(MMAB):c.349-5C>G
NM_052845.4(MMAB):c.349-5C>T	rs1228758269
NM_052845.4(MMAB):c.349-6C>T
NM_052845.4(MMAB):c.349-8C>A
NM_052845.4(MMAB):c.349-8C>G	rs1468191738
NM_052845.4(MMAB):c.349-8C>T	rs1468191738
NM_052845.4(MMAB):c.360A>C (p.Thr120=)
NM_052845.4(MMAB):c.378G>A (p.Ser126=)	rs749452007
NM_052845.4(MMAB):c.381C>T (p.Ala127=)	rs1204546700
NM_052845.4(MMAB):c.405C>T (p.Ala135=)
NM_052845.4(MMAB):c.408G>A (p.Arg136=)	rs760995089
NM_052845.4(MMAB):c.414T>C (p.Ala138=)
NM_052845.4(MMAB):c.414T>G (p.Ala138=)	rs2136199754
NM_052845.4(MMAB):c.417C>T (p.His139=)	rs2136199746
NM_052845.4(MMAB):c.418T>C (p.Leu140=)	rs768054177
NM_052845.4(MMAB):c.421+14T>A	rs760915792
NM_052845.4(MMAB):c.421+18G>C
NM_052845.4(MMAB):c.421+7C>A
NM_052845.4(MMAB):c.422-19del
NM_052845.4(MMAB):c.422-5_422-3del	rs2136199438
NM_052845.4(MMAB):c.426T>C (p.Tyr142=)
NM_052845.4(MMAB):c.432G>A (p.Thr144=)	rs200127370
NM_052845.4(MMAB):c.432G>T (p.Thr144=)
NM_052845.4(MMAB):c.441G>A (p.Ala147=)	rs1038979872
NM_052845.4(MMAB):c.441G>C (p.Ala147=)	rs1038979872
NM_052845.4(MMAB):c.444G>T (p.Gly148=)
NM_052845.4(MMAB):c.483C>T (p.Thr161=)
NM_052845.4(MMAB):c.492C>G (p.Leu164=)
NM_052845.4(MMAB):c.513C>A (p.Ile171=)
NM_052845.4(MMAB):c.513C>T (p.Ile171=)	rs2136199131
NM_052845.4(MMAB):c.519+10G>A	rs771725706
NM_052845.4(MMAB):c.519+16G>A
NM_052845.4(MMAB):c.519+19T>A
NM_052845.4(MMAB):c.520-15C>T
NM_052845.4(MMAB):c.520-18G>A
NM_052845.4(MMAB):c.520-19T>C
NM_052845.4(MMAB):c.520-20A>G
NM_052845.4(MMAB):c.520-4T>C
NM_052845.4(MMAB):c.555C>T (p.Cys185=)
NM_052845.4(MMAB):c.556C>A (p.Arg186=)
NM_052845.4(MMAB):c.561C>G (p.Ala187=)	rs370773720
NM_052845.4(MMAB):c.564G>A (p.Val188=)
NM_052845.4(MMAB):c.570C>T (p.Arg190=)
NM_052845.4(MMAB):c.573G>C (p.Arg191=)	rs2136198226
NM_052845.4(MMAB):c.576C>G (p.Ala192=)
NM_052845.4(MMAB):c.576C>T (p.Ala192=)	rs757562796
NM_052845.4(MMAB):c.579G>A (p.Glu193=)	rs2136198146
NM_052845.4(MMAB):c.584+12G>A
NM_052845.4(MMAB):c.584+14_584+33del	rs1555274482
NM_052845.4(MMAB):c.584+8G>C
NM_052845.4(MMAB):c.584+9G>C
NM_052845.4(MMAB):c.585-10C>T	rs375474421
NM_052845.4(MMAB):c.585-12C>T
NM_052845.4(MMAB):c.585-16T>A
NM_052845.4(MMAB):c.585-16T>C
NM_052845.4(MMAB):c.585-17G>A
NM_052845.4(MMAB):c.585-18T>C
NM_052845.4(MMAB):c.585-4C>G	rs2136195288
NM_052845.4(MMAB):c.585-9C>T
NM_052845.4(MMAB):c.591G>A (p.Val197=)	rs2136195257
NM_052845.4(MMAB):c.597T>C (p.Leu199=)
NM_052845.4(MMAB):c.615C>G (p.Thr205=)	rs760629956
NM_052845.4(MMAB):c.621G>A (p.Ala207=)
NM_052845.4(MMAB):c.621G>C (p.Ala207=)
NM_052845.4(MMAB):c.633G>A (p.Lys211=)
NM_052845.4(MMAB):c.644+14A>C
NM_052845.4(MMAB):c.644+17T>C
NM_052845.4(MMAB):c.644+7dup
NM_052845.4(MMAB):c.645-16C>A
NM_052845.4(MMAB):c.645-20CT[6]
NM_052845.4(MMAB):c.645-7C>T
NM_052845.4(MMAB):c.645-8C>T
NM_052845.4(MMAB):c.660C>G (p.Leu220=)
NM_052845.4(MMAB):c.666G>T (p.Thr222=)	rs369296142
NM_052845.4(MMAB):c.696G>T (p.Gly232=)
NM_052845.4(MMAB):c.702A>G (p.Gln234=)
NM_052845.4(MMAB):c.705G>A (p.Glu235=)
NM_052845.4(MMAB):c.729A>G (p.Pro243=)
NM_052845.4(MMAB):c.732G>C (p.Ser244=)	rs186864802
NM_052845.4(MMAB):c.735C>G (p.Ala245=)	rs377015836
NM_052845.4(MMAB):c.735C>T (p.Ala245=)	rs377015836

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