ClinVar Miner

List of variants reported as likely benign for disorder of methionine catabolism by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (4):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 133
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HGVS dbSNP gnomAD frequency
NM_000687.4(AHCY):c.367G>A (p.Gly123Arg) rs41301825 0.00406
NM_000687.4(AHCY):c.853C>T (p.Arg285Trp) rs116846245 0.00152
NM_000687.4(AHCY):c.219+7C>G rs200332864 0.00098
NM_000687.4(AHCY):c.1008C>T (p.Ile336=) rs139344907 0.00067
NM_000687.4(AHCY):c.29-16C>T rs150128901 0.00052
NM_000687.4(AHCY):c.390C>T (p.Asp130=) rs143931269 0.00050
NM_000687.4(AHCY):c.636C>T (p.Ala212=) rs141172613 0.00041
NM_000687.4(AHCY):c.882C>G (p.Ala294=) rs376464023 0.00030
NM_000687.4(AHCY):c.855-8C>T rs370059571 0.00029
NM_000687.4(AHCY):c.471C>T (p.Thr157=) rs192590509 0.00019
NM_000687.4(AHCY):c.945C>T (p.Ala315=) rs368716358 0.00007
NM_000687.4(AHCY):c.29-5C>T rs375669228 0.00006
NM_000687.4(AHCY):c.393C>T (p.Asp131=) rs553442034 0.00004
NM_000687.4(AHCY):c.29-4G>A rs774846394 0.00003
NM_000687.4(AHCY):c.321C>T (p.Asp107=) rs760451324 0.00003
NM_000687.4(AHCY):c.445+11C>T rs375253690 0.00003
NM_000687.4(AHCY):c.1168-16C>T rs776065604 0.00002
NM_000687.4(AHCY):c.1015C>T (p.Leu339=) rs373915089 0.00001
NM_000687.4(AHCY):c.1236G>A (p.Lys412=) rs756185456 0.00001
NM_000687.4(AHCY):c.219+8C>T rs768480898 0.00001
NM_000687.4(AHCY):c.309G>A (p.Lys103=) rs201902693 0.00001
NM_000687.4(AHCY):c.558+13G>T rs2297750 0.00001
NM_000687.4(AHCY):c.639C>T (p.Gly213=) rs757357954 0.00001
NM_000687.4(AHCY):c.936C>T (p.Asn312=) rs528770765 0.00001
NM_000687.4(AHCY):c.942C>T (p.Asn314=) rs767550579 0.00001
NM_000687.4(AHCY):c.1003C>T (p.Arg335Cys) rs565486330
NM_000687.4(AHCY):c.1011C>T (p.Ile337=)
NM_000687.4(AHCY):c.1029G>T (p.Arg343=)
NM_000687.4(AHCY):c.1035C>T (p.Val345=)
NM_000687.4(AHCY):c.1041G>C (p.Leu347=)
NM_000687.4(AHCY):c.1062C>A (p.Pro354=)
NM_000687.4(AHCY):c.1068C>T (p.Phe356=)
NM_000687.4(AHCY):c.1080C>T (p.Asn360=)
NM_000687.4(AHCY):c.1086C>T (p.Phe362=)
NM_000687.4(AHCY):c.1089C>T (p.Thr363=)
NM_000687.4(AHCY):c.1104G>A (p.Ala368=)
NM_000687.4(AHCY):c.1110C>A (p.Ile370=)
NM_000687.4(AHCY):c.1110C>T (p.Ile370=)
NM_000687.4(AHCY):c.1114C>T (p.Leu372=)
NM_000687.4(AHCY):c.1140C>T (p.Pro380=)
NM_000687.4(AHCY):c.1167+14_1167+16del rs766042035
NM_000687.4(AHCY):c.1168-6C>A
NM_000687.4(AHCY):c.1168-9T>C rs2122711427
NM_000687.4(AHCY):c.120G>A (p.Ser40=)
NM_000687.4(AHCY):c.1215G>A (p.Lys405=)
NM_000687.4(AHCY):c.1261T>C (p.Cys421Arg)
NM_000687.4(AHCY):c.129G>A (p.Lys43=)
NM_000687.4(AHCY):c.141C>T (p.Gly47=)
NM_000687.4(AHCY):c.150C>T (p.Ile50=)
NM_000687.4(AHCY):c.18C>T (p.Pro6=) rs1601690050
NM_000687.4(AHCY):c.201C>T (p.Leu67=)
NM_000687.4(AHCY):c.219+13G>A
NM_000687.4(AHCY):c.219+15T>C
NM_000687.4(AHCY):c.219+18A>G rs2122783447
NM_000687.4(AHCY):c.220-4C>G
NM_000687.4(AHCY):c.255G>A (p.Gln85=)
NM_000687.4(AHCY):c.264G>A (p.Ala88=)
NM_000687.4(AHCY):c.267G>A (p.Ala89=)
NM_000687.4(AHCY):c.273C>T (p.Ala91=)
NM_000687.4(AHCY):c.28+11G>A
NM_000687.4(AHCY):c.28+14C>T
NM_000687.4(AHCY):c.28+15C>G
NM_000687.4(AHCY):c.29-10C>A
NM_000687.4(AHCY):c.29-15T>C
NM_000687.4(AHCY):c.295+11C>T
NM_000687.4(AHCY):c.296-12C>T
NM_000687.4(AHCY):c.296-13A>G
NM_000687.4(AHCY):c.296-4C>G
NM_000687.4(AHCY):c.297G>A (p.Val99=)
NM_000687.4(AHCY):c.318G>A (p.Thr106=)
NM_000687.4(AHCY):c.324G>A (p.Glu108=)
NM_000687.4(AHCY):c.366C>T (p.Asp122=)
NM_000687.4(AHCY):c.36C>T (p.Ile12=)
NM_000687.4(AHCY):c.399C>T (p.Gly133=)
NM_000687.4(AHCY):c.39C>T (p.Gly13=)
NM_000687.4(AHCY):c.420C>T (p.His140=)
NM_000687.4(AHCY):c.432G>A (p.Pro144=)
NM_000687.4(AHCY):c.445+11C>A
NM_000687.4(AHCY):c.445+12G>A
NM_000687.4(AHCY):c.445+17A>G
NM_000687.4(AHCY):c.446-13C>G
NM_000687.4(AHCY):c.446-17T>C
NM_000687.4(AHCY):c.453A>T (p.Arg151=)
NM_000687.4(AHCY):c.474G>A (p.Thr158=)
NM_000687.4(AHCY):c.546C>T (p.Asp182=) rs1363332391
NM_000687.4(AHCY):c.549C>T (p.Ser183=)
NM_000687.4(AHCY):c.552C>T (p.Val184=)
NM_000687.4(AHCY):c.558+20C>T
NM_000687.4(AHCY):c.559-13_559-12dup
NM_000687.4(AHCY):c.559-5T>C
NM_000687.4(AHCY):c.570C>T (p.Asp190=)
NM_000687.4(AHCY):c.63C>T (p.Ala21=)
NM_000687.4(AHCY):c.648G>A (p.Ala216=)
NM_000687.4(AHCY):c.648G>C (p.Ala216=)
NM_000687.4(AHCY):c.64C>T (p.Leu22=)
NM_000687.4(AHCY):c.690G>A (p.Gln230=)
NM_000687.4(AHCY):c.705C>T (p.Phe235=)
NM_000687.4(AHCY):c.714C>T (p.Arg238=)
NM_000687.4(AHCY):c.720C>T (p.Ile240=)
NM_000687.4(AHCY):c.72T>C (p.Ile24=) rs1331815162
NM_000687.4(AHCY):c.766+13A>G
NM_000687.4(AHCY):c.766+14A>G
NM_000687.4(AHCY):c.766+20G>A
NM_000687.4(AHCY):c.766+7T>C
NM_000687.4(AHCY):c.767-8_767-7del rs61664915
NM_000687.4(AHCY):c.816T>C (p.Phe272=)
NM_000687.4(AHCY):c.81C>T (p.Asn27=)
NM_000687.4(AHCY):c.822C>T (p.Thr274=)
NM_000687.4(AHCY):c.825C>T (p.Thr275=)
NM_000687.4(AHCY):c.831C>G (p.Gly277=) rs764906515
NM_000687.4(AHCY):c.854+14G>T
NM_000687.4(AHCY):c.854+17G>A
NM_000687.4(AHCY):c.854+18G>A
NM_000687.4(AHCY):c.855-9G>C
NM_000687.4(AHCY):c.864G>A (p.Glu288=)
NM_000687.4(AHCY):c.882C>T (p.Ala294=)
NM_000687.4(AHCY):c.90G>A (p.Pro30=)
NM_000687.4(AHCY):c.90G>C (p.Pro30=)
NM_000687.4(AHCY):c.924C>G (p.Val308=)
NM_000687.4(AHCY):c.954G>A (p.Lys318=)
NM_000687.4(AHCY):c.963C>A (p.Ile321=)
NM_000687.4(AHCY):c.963C>T (p.Ile321=)
NM_000687.4(AHCY):c.969G>A (p.Pro323=)
NM_000687.4(AHCY):c.972+13C>T
NM_000687.4(AHCY):c.972+14G>A
NM_000687.4(AHCY):c.972+8G>T
NM_000687.4(AHCY):c.973-10C>T
NM_000687.4(AHCY):c.973-17G>C
NM_000687.4(AHCY):c.973-17G>T
NM_000687.4(AHCY):c.973-6G>A
NM_000687.4(AHCY):c.973-6G>C
NM_000687.4(AHCY):c.981G>A (p.Arg327=) rs1338041155
NM_000687.4(AHCY):c.987G>A (p.Arg329=)

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