List of variants in gene MMADHC reported as likely benign for homocystinuria

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: 169

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HGVS	dbSNP	gnomAD frequency
NM_015702.3(MMADHC):c.87A>C (p.Lys29Asn)	rs61750442	0.00751
NM_015702.3(MMADHC):c.473G>A (p.Arg158Gln)	rs114276563	0.00611
NM_015702.3(MMADHC):c.646C>G (p.Arg216Gly)	rs141093638	0.00181
NM_015702.3(MMADHC):c.578T>C (p.Val193Ala)	rs147370143	0.00117
NM_015702.3(MMADHC):c.707C>T (p.Pro236Leu)	rs143753228	0.00098
NM_015702.3(MMADHC):c.741A>G (p.Glu247=)	rs146820547	0.00062
NM_015702.3(MMADHC):c.617A>G (p.Asn206Ser)	rs138607412	0.00051
NM_015702.3(MMADHC):c.600C>T (p.Leu200=)	rs754142876	0.00008
NM_015702.3(MMADHC):c.610-12C>A	rs371855955	0.00008
NM_015702.3(MMADHC):c.513C>G (p.Gly171=)	rs373384350	0.00007
NM_015702.3(MMADHC):c.510T>C (p.Asn170=)	rs745423033	0.00006
NM_015702.3(MMADHC):c.515A>C (p.Lys172Thr)	rs147318949	0.00006
NM_015702.3(MMADHC):c.696+13C>A	rs199528296	0.00004
NM_015702.3(MMADHC):c.537A>G (p.Thr179=)	rs377571291	0.00002
NM_015702.3(MMADHC):c.615C>T (p.Ile205=)	rs986210972	0.00002
NM_015702.3(MMADHC):c.117G>A (p.Ser39=)	rs1448387303	0.00001
NM_015702.3(MMADHC):c.237T>C (p.Gly79=)	rs763521620	0.00001
NM_015702.3(MMADHC):c.372+7T>C	rs368516017	0.00001
NM_015702.3(MMADHC):c.373-16T>C	rs754844727	0.00001
NM_015702.3(MMADHC):c.373-8C>A	rs766361763	0.00001
NM_015702.3(MMADHC):c.432C>G (p.Ala144=)	rs1478523517	0.00001
NM_015702.3(MMADHC):c.466T>C (p.Leu156=)	rs778778537	0.00001
NM_015702.3(MMADHC):c.561T>G (p.Thr187=)	rs1282238457	0.00001
NM_015702.3(MMADHC):c.585T>C (p.Ile195=)	rs757784250	0.00001
NM_015702.3(MMADHC):c.624T>C (p.Ala208=)	rs1485998377	0.00001
NM_015702.3(MMADHC):c.660T>C (p.Tyr220=)	rs1427942673	0.00001
NM_015702.3(MMADHC):c.765T>C (p.Ser255=)	rs376860199	0.00001
NM_015702.3(MMADHC):c.828A>G (p.Val276=)	rs937318527	0.00001
NM_015702.3(MMADHC):c.855A>T (p.Pro285=)	rs768988562	0.00001
NM_015702.3(MMADHC):c.10-11G>C
NM_015702.3(MMADHC):c.10-13G>A
NM_015702.3(MMADHC):c.105A>G (p.Gly35=)
NM_015702.3(MMADHC):c.105A>T (p.Gly35=)	rs761480889
NM_015702.3(MMADHC):c.108A>G (p.Ser36=)
NM_015702.3(MMADHC):c.111A>C (p.Ser37=)
NM_015702.3(MMADHC):c.117G>T (p.Ser39=)
NM_015702.3(MMADHC):c.120T>C (p.Asp40=)
NM_015702.3(MMADHC):c.123G>A (p.Glu41=)	rs1190732521
NM_015702.3(MMADHC):c.138T>C (p.Ala46=)
NM_015702.3(MMADHC):c.150T>C (p.Asp50=)	rs2105049895
NM_015702.3(MMADHC):c.154+17A>C
NM_015702.3(MMADHC):c.154+20G>C
NM_015702.3(MMADHC):c.154+9A>T	rs2105049874
NM_015702.3(MMADHC):c.155-10T>C
NM_015702.3(MMADHC):c.155-12_155-10del
NM_015702.3(MMADHC):c.155-16T>G
NM_015702.3(MMADHC):c.155-17T>C
NM_015702.3(MMADHC):c.155-6C>T
NM_015702.3(MMADHC):c.155-7T>C	rs1305728146
NM_015702.3(MMADHC):c.155-8C>G	rs1349035917
NM_015702.3(MMADHC):c.160C>A (p.Arg54=)
NM_015702.3(MMADHC):c.168G>A (p.Val56=)	rs2105048289
NM_015702.3(MMADHC):c.192C>A (p.Pro64=)	rs2105048270
NM_015702.3(MMADHC):c.192C>T (p.Pro64=)
NM_015702.3(MMADHC):c.207T>C (p.Asp69=)	rs1327529103
NM_015702.3(MMADHC):c.213G>A (p.Arg71=)
NM_015702.3(MMADHC):c.234A>T (p.Ile78=)
NM_015702.3(MMADHC):c.249C>T (p.His83=)
NM_015702.3(MMADHC):c.252C>T (p.Leu84=)
NM_015702.3(MMADHC):c.27C>T (p.Ala9=)
NM_015702.3(MMADHC):c.307C>T (p.Leu103=)
NM_015702.3(MMADHC):c.309A>C (p.Leu103=)
NM_015702.3(MMADHC):c.309A>T (p.Leu103=)	rs1053884096
NM_015702.3(MMADHC):c.30A>G (p.Arg10=)	rs749344711
NM_015702.3(MMADHC):c.318T>C (p.Pro106=)
NM_015702.3(MMADHC):c.333A>G (p.Arg111=)
NM_015702.3(MMADHC):c.342T>C (p.Phe114=)
NM_015702.3(MMADHC):c.360G>A (p.Val120=)
NM_015702.3(MMADHC):c.372+17A>G
NM_015702.3(MMADHC):c.372+8G>A	rs2105048110
NM_015702.3(MMADHC):c.372+8G>C	rs2105048110
NM_015702.3(MMADHC):c.372+8G>T
NM_015702.3(MMADHC):c.373-10dup	rs1682721920
NM_015702.3(MMADHC):c.373-13T>C
NM_015702.3(MMADHC):c.373-13T>G
NM_015702.3(MMADHC):c.373-14C>G
NM_015702.3(MMADHC):c.373-18T>C
NM_015702.3(MMADHC):c.373-4T>G
NM_015702.3(MMADHC):c.373-5C>T
NM_015702.3(MMADHC):c.373-8C>G
NM_015702.3(MMADHC):c.373-8C>T
NM_015702.3(MMADHC):c.393A>G (p.Glu131=)	rs1682721203
NM_015702.3(MMADHC):c.39C>T (p.Ser13=)	rs543128117
NM_015702.3(MMADHC):c.402T>A (p.Ile134=)
NM_015702.3(MMADHC):c.438A>G (p.Val146=)
NM_015702.3(MMADHC):c.456A>G (p.Thr152=)	rs374470946
NM_015702.3(MMADHC):c.459T>C (p.Cys153=)	rs1323984126
NM_015702.3(MMADHC):c.471G>A (p.Leu157=)
NM_015702.3(MMADHC):c.478+10G>A
NM_015702.3(MMADHC):c.478+12T>C
NM_015702.3(MMADHC):c.478+15A>T
NM_015702.3(MMADHC):c.478+19T>G
NM_015702.3(MMADHC):c.478+7C>A
NM_015702.3(MMADHC):c.478+7C>T	rs2105046042
NM_015702.3(MMADHC):c.478+8A>T
NM_015702.3(MMADHC):c.478+9T>C	rs1573877066
NM_015702.3(MMADHC):c.479-11_479-9del	rs777304368
NM_015702.3(MMADHC):c.479-13T>C
NM_015702.3(MMADHC):c.479-15T>A
NM_015702.3(MMADHC):c.479-18G>C
NM_015702.3(MMADHC):c.479-20A>G
NM_015702.3(MMADHC):c.479-4G>A	rs2105045611
NM_015702.3(MMADHC):c.479-6T>C	rs1682708794
NM_015702.3(MMADHC):c.479-7T>A	rs1246748373
NM_015702.3(MMADHC):c.479-7T>C	rs1246748373
NM_015702.3(MMADHC):c.486A>G (p.Glu162=)
NM_015702.3(MMADHC):c.48A>C (p.Pro16=)	rs2105050018
NM_015702.3(MMADHC):c.507T>C (p.Ala169=)	rs1347714473
NM_015702.3(MMADHC):c.519A>G (p.Leu173=)
NM_015702.3(MMADHC):c.531T>C (p.Thr177=)	rs369822209
NM_015702.3(MMADHC):c.531T>G (p.Thr177=)
NM_015702.3(MMADHC):c.534A>G (p.Val178=)	rs1268371654
NM_015702.3(MMADHC):c.537A>C (p.Thr179=)
NM_015702.3(MMADHC):c.549G>A (p.Lys183=)
NM_015702.3(MMADHC):c.555T>C (p.Asp185=)
NM_015702.3(MMADHC):c.57C>T (p.Cys19=)
NM_015702.3(MMADHC):c.588A>G (p.Glu196=)
NM_015702.3(MMADHC):c.597G>C (p.Val199=)
NM_015702.3(MMADHC):c.601T>C (p.Leu201=)	rs2105045479
NM_015702.3(MMADHC):c.609+11C>G
NM_015702.3(MMADHC):c.609+13A>G
NM_015702.3(MMADHC):c.609+14T>C
NM_015702.3(MMADHC):c.609+8T>G
NM_015702.3(MMADHC):c.609+8_609+100del	rs1553453945
NM_015702.3(MMADHC):c.610-12C>T
NM_015702.3(MMADHC):c.610-13A>G
NM_015702.3(MMADHC):c.610-4G>A	rs776311269
NM_015702.3(MMADHC):c.610-8C>T
NM_015702.3(MMADHC):c.610-8del
NM_015702.3(MMADHC):c.610-9C>A
NM_015702.3(MMADHC):c.610-9C>G
NM_015702.3(MMADHC):c.612C>T (p.Phe204=)	rs1573874420
NM_015702.3(MMADHC):c.618T>C (p.Asn206=)
NM_015702.3(MMADHC):c.630A>G (p.Glu210=)
NM_015702.3(MMADHC):c.639T>C (p.Tyr213=)
NM_015702.3(MMADHC):c.666T>C (p.Ala222=)	rs2105042235
NM_015702.3(MMADHC):c.672T>C (p.Phe224=)	rs2105042231
NM_015702.3(MMADHC):c.678C>T (p.Asp226=)
NM_015702.3(MMADHC):c.684A>C (p.Ser228=)	rs766184567
NM_015702.3(MMADHC):c.684A>T (p.Ser228=)
NM_015702.3(MMADHC):c.696+16T>C
NM_015702.3(MMADHC):c.696+17T>A
NM_015702.3(MMADHC):c.697-10A>G
NM_015702.3(MMADHC):c.697-16G>A
NM_015702.3(MMADHC):c.697-17C>T
NM_015702.3(MMADHC):c.697-18del
NM_015702.3(MMADHC):c.697-21_697-7dup
NM_015702.3(MMADHC):c.697-4T>C
NM_015702.3(MMADHC):c.697-5C>T
NM_015702.3(MMADHC):c.708A>G (p.Pro236=)	rs550333538
NM_015702.3(MMADHC):c.711T>C (p.Tyr237=)
NM_015702.3(MMADHC):c.714A>C (p.Thr238=)	rs2105041533
NM_015702.3(MMADHC):c.723T>G (p.Thr241=)
NM_015702.3(MMADHC):c.759A>T (p.Gly253=)	rs886054920
NM_015702.3(MMADHC):c.795T>C (p.Ile265=)	rs1682615780
NM_015702.3(MMADHC):c.819T>C (p.His273=)	rs752425275
NM_015702.3(MMADHC):c.822A>G (p.Val274=)	rs1474967244
NM_015702.3(MMADHC):c.825T>C (p.Val275=)
NM_015702.3(MMADHC):c.840C>T (p.Phe280=)	rs2105041390
NM_015702.3(MMADHC):c.864T>C (p.His288=)
NM_015702.3(MMADHC):c.876A>G (p.Lys292=)	rs1558844562
NM_015702.3(MMADHC):c.877T>C (p.Leu293=)
NM_015702.3(MMADHC):c.885A>C (p.Gly295=)	rs746282965
NM_015702.3(MMADHC):c.885A>G (p.Gly295=)	rs746282965
NM_015702.3(MMADHC):c.891G>A (p.Ter297=)
NM_015702.3(MMADHC):c.90C>G (p.Ala30=)	rs2105049979
NM_015702.3(MMADHC):c.96G>A (p.Ser32=)
NM_015702.3(MMADHC):c.96G>T (p.Ser32=)	rs1366609158
NM_015702.3(MMADHC):c.99T>C (p.Thr33=)	rs368111926

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