List of variants reported as pathogenic for nutritional disorder by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 105

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HGVS	dbSNP	gnomAD frequency
NM_001370658.1(BTD):c.1270G>C (p.Asp424His)	rs13078881	0.03225
NM_024514.5(CYP2R1):c.296T>C (p.Leu99Pro)	rs61495246	0.00107
NM_015506.3(MMACHC):c.271dup (p.Arg91fs)	rs398124292	0.00093
NM_018368.4(LMBRD1):c.1056del (p.Asn353fs)	rs749272546	0.00062
NM_001370658.1(BTD):c.1308A>C (p.Gln436His)	rs80338685	0.00046
NM_001370658.1(BTD):c.451G>A (p.Ala151Thr)	rs13073139	0.00039
NM_015506.3(MMACHC):c.440G>C (p.Gly147Ala)	rs140522266	0.00034
NM_015506.3(MMACHC):c.389A>G (p.Tyr130Cys)	rs200094982	0.00014
NM_005912.2(MC4R):c.105C>A (p.Tyr35Ter)	rs13447324	0.00013
NM_018129.4(PNPO):c.98A>T (p.Asp33Val)	rs370243877	0.00013
NM_001370658.1(BTD):c.1429C>T (p.Pro477Ser)	rs138818907	0.00011
NM_001370658.1(BTD):c.1552C>T (p.Arg518Cys)	rs80338686	0.00011
NM_015506.3(MMACHC):c.331C>T (p.Arg111Ter)	rs121918242	0.00011
NM_000370.3(TTPA):c.513_514insTT (p.Thr172fs)	rs397515379	0.00010
NM_001370658.1(BTD):c.1535C>T (p.Thr512Met)	rs104893688	0.00010
NM_000254.3(MTR):c.3518C>T (p.Pro1173Leu)	rs121913578	0.00009
NM_002454.3(MTRR):c.903+469T>C	rs893229476	0.00007
NM_015506.3(MMACHC):c.482G>A (p.Arg161Gln)	rs121918243	0.00007
NM_015506.3(MMACHC):c.481C>T (p.Arg161Ter)	rs370596113	0.00006
NM_018129.4(PNPO):c.413G>A (p.Arg138His)	rs764940495	0.00005
NM_000370.3(TTPA):c.400C>T (p.Arg134Ter)	rs121917851	0.00004
NM_000785.4(CYP27B1):c.262del (p.Val88fs)	rs387906260	0.00004
NM_001182.5(ALDH7A1):c.1513G>C (p.Gly505Arg)	rs556400964	0.00004
NM_001182.5(ALDH7A1):c.834G>A (p.Val278=)	rs201948406	0.00004
NM_001352514.2(HLCS):c.2434C>T (p.Arg812Ter)	rs146448211	0.00004
NM_005912.3(MC4R):c.896C>A (p.Pro299His)	rs52804924	0.00004
NM_001182.5(ALDH7A1):c.664A>G (p.Thr222Ala)	rs777829351	0.00003
NM_001352514.2(HLCS):c.1960+5G>A	rs753887925	0.00003
NM_001352514.2(HLCS):c.1963C>T (p.Arg655Trp)	rs119103229	0.00003
NM_001370658.1(BTD):c.535G>A (p.Val179Met)	rs397514375	0.00003
NM_015506.3(MMACHC):c.566G>A (p.Arg189His)	rs761221416	0.00003
NM_015506.3(MMACHC):c.615C>A (p.Tyr205Ter)	rs747527726	0.00003
NM_015506.3(MMACHC):c.666C>A (p.Tyr222Ter)	rs201266016	0.00003
NM_018129.4(PNPO):c.686G>A (p.Arg229Gln)	rs773450573	0.00003
NM_000370.3(TTPA):c.552G>A (p.Thr184=)	rs181109321	0.00002
NM_000370.3(TTPA):c.661C>T (p.Arg221Trp)	rs35916840	0.00002
NM_001081.4(CUBN):c.6359G>A (p.Trp2120Ter)	rs566060177	0.00002
NM_001182.5(ALDH7A1):c.1004G>A (p.Arg335Gln)	rs754449549	0.00002
NM_001182.5(ALDH7A1):c.503_506del (p.Ile168fs)	rs1064794241	0.00002
NM_001182.5(ALDH7A1):c.584A>G (p.Asn195Ser)	rs372660425	0.00002
NM_001352514.2(HLCS):c.1529T>A (p.Val510Asp)	rs769499327	0.00002
NM_001352514.2(HLCS):c.2134C>T (p.Arg712Ter)	rs772791252	0.00002
NM_001370658.1(BTD):c.468G>T (p.Lys156Asn)	rs397514367	0.00002
NM_001370658.1(BTD):c.497G>A (p.Cys166Tyr)	rs397514369	0.00002
NM_015506.3(MMACHC):c.457C>T (p.Arg153Ter)	rs757325789	0.00002
NM_015506.3(MMACHC):c.608G>A (p.Trp203Ter)	rs398124295	0.00002
NM_015506.3(MMACHC):c.609G>A (p.Trp203Ter)	rs587776889	0.00002
NM_018129.4(PNPO):c.673C>T (p.Arg225Cys)	rs769266169	0.00002
NM_000370.3(TTPA):c.205-1G>C	rs886040963	0.00001
NM_001182.5(ALDH7A1):c.1489+5G>A	rs368820286	0.00001
NM_001352514.2(HLCS):c.1088T>G (p.Leu363Arg)	rs28934602	0.00001
NM_001370658.1(BTD):c.1193G>C (p.Cys398Ser)	rs397514410	0.00001
NM_001370658.1(BTD):c.1207T>C (p.Cys403Arg)	rs397514412	0.00001
NM_001370658.1(BTD):c.281G>T (p.Gly94Val)	rs375712490	0.00001
NM_002454.3(MTRR):c.1361C>T (p.Ser454Leu)	rs137853062	0.00001
NM_005050.4(ABCD4):c.423C>G (p.Asn141Lys)	rs776529140	0.00001
NM_015506.3(MMACHC):c.217C>T (p.Arg73Ter)	rs796051995	0.00001
NM_015506.3(MMACHC):c.388T>C (p.Tyr130His)	rs372670428	0.00001
NM_015506.3(MMACHC):c.394C>T (p.Arg132Ter)	rs121918241	0.00001
NM_015506.3(MMACHC):c.398_399del (p.Gln133fs)	rs746135357	0.00001
NM_015506.3(MMACHC):c.3G>A (p.Met1Ile)	rs779893448	0.00001
NM_015506.3(MMACHC):c.420G>A (p.Trp140Ter)	rs796051996	0.00001
NM_015506.3(MMACHC):c.567dup (p.Ile190fs)	rs1463495909	0.00001
NM_015506.3(MMACHC):c.80A>G (p.Gln27Arg)	rs546099787	0.00001
NM_015702.3(MMADHC):c.746A>G (p.Tyr249Cys)	rs118204046	0.00001
NM_000060.2(BTD):c.[1207T>G;1330G>C]
NM_000060.2(BTD):c.[511G>A;1330G>C]
NM_000254.3(MTR):c.3600del (p.Ile1201fs)	rs1346847201
NM_000370.3(TTPA):c.487del (p.Trp163fs)	rs397515378
NM_000370.3(TTPA):c.744del (p.Glu249fs)	rs397515377
NM_000785.4(CYP27B1):c.1319_1325dup (p.Phe443fs)	rs780950819
NM_000785.4(CYP27B1):c.1376G>T (p.Arg459Leu)
NM_001182.5(ALDH7A1):c.1281G>T (p.Glu427Asp)	rs796052271
NM_001182.5(ALDH7A1):c.1432T>A (p.Cys478Ser)
NM_001352514.2(HLCS):c.1151T>C (p.Leu384Pro)	rs119103227
NM_001352514.2(HLCS):c.1223del (p.Gly408fs)	rs771944310
NM_001352514.2(HLCS):c.1576C>T (p.Gln526Ter)	rs1393866282
NM_001352514.2(HLCS):c.2089G>A (p.Val697Met)	rs119103231
NM_001370658.1(BTD):c.1181_1192del (p.Tyr394_Val397del)	rs397514404
NM_001370658.1(BTD):c.1211G>C (p.Cys404Ser)	rs397514335
NM_001370658.1(BTD):c.1256C>A (p.Ala419Asp)
NM_001370658.1(BTD):c.1372G>C (p.Ala458Pro)	rs181396238
NM_001370658.1(BTD):c.218A>G (p.Tyr73Cys)	rs397514348
NM_001370658.1(BTD):c.569A>G (p.Tyr190Cys)	rs397507174
NM_001370658.1(BTD):c.641C>T (p.Thr214Ile)	rs587783005
NM_001370658.1(BTD):c.70_71del (p.Thr24fs)
NM_002454.3(MTRR):c.1674dup (p.Arg559Ter)
NM_005050.4(ABCD4):c.1425dup (p.Tyr476fs)
NM_005334.3(HCFC1):c.218C>T (p.Ala73Val)	rs397515486
NM_005912.3(MC4R):c.835_836dup (p.Phe280fs)	rs193922687
NM_015506.3(MMACHC):c.321_329delinsACACC (p.Asn110fs)
NM_015506.3(MMACHC):c.328_331del (p.Asn110fs)	rs796052000
NM_015506.3(MMACHC):c.352del (p.Gln118fs)	rs749264632
NM_015506.3(MMACHC):c.440G>A (p.Gly147Asp)	rs140522266
NM_015506.3(MMACHC):c.445_446del (p.Cys149fs)	rs796051999
NM_015506.3(MMACHC):c.500del (p.Pro167fs)	rs1553162918
NM_015506.3(MMACHC):c.547_548del (p.Val183fs)	rs1305170860
NM_015506.3(MMACHC):c.565del (p.Arg189fs)	rs1257204721
NM_015506.3(MMACHC):c.615C>G (p.Tyr205Ter)	rs747527726
NM_015506.3(MMACHC):c.658_660del (p.Lys220del)	rs398124296
NM_015506.3(MMACHC):c.90G>A (p.Trp30Ter)	rs771673343
NM_015702.3(MMADHC):c.472C>T (p.Arg158Ter)	rs886039425
NM_015702.3(MMADHC):c.646C>T (p.Arg216Ter)	rs141093638
NM_018129.4(PNPO):c.246del (p.Leu83fs)
NM_018368.4(LMBRD1):c.967_970del (p.Leu323fs)	rs771477094

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