ClinVar Miner

List of variants reported as likely pathogenic for nutritional disorder by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (116):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 49
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HGVS dbSNP gnomAD frequency
NM_001370658.1(BTD):c.1270G>C (p.Asp424His) rs13078881 0.03225
NM_001081.4(CUBN):c.6821+2T>C rs150901286 0.00083
NM_001081.4(CUBN):c.7095G>A (p.Trp2365Ter) rs374538208 0.00007
NM_001370658.1(BTD):c.383G>A (p.Arg128His) rs367902696 0.00005
NM_000785.4(CYP27B1):c.1226C>T (p.Thr409Ile) rs118204008 0.00004
NM_001352514.2(HLCS):c.2434C>T (p.Arg812Ter) rs146448211 0.00004
NM_001370658.1(BTD):c.873del (p.Ser291fs) rs397514395 0.00004
NM_000785.4(CYP27B1):c.1474C>T (p.Arg492Trp) rs749537609 0.00003
NM_001081.4(CUBN):c.6088C>T (p.Arg2030Ter) rs374417889 0.00003
NM_001370658.1(BTD):c.535G>A (p.Val179Met) rs397514375 0.00003
NM_172250.3(MMAA):c.658G>A (p.Val220Met) rs150376474 0.00003
NM_000370.3(TTPA):c.552G>A (p.Thr184=) rs181109321 0.00002
NM_001081.4(CUBN):c.10612G>T (p.Glu3538Ter) rs756614749 0.00002
NM_001081.4(CUBN):c.8755C>T (p.Arg2919Ter) rs370038232 0.00002
NM_002454.3(MTRR):c.166G>A (p.Val56Met) rs761061866 0.00002
NM_052845.4(MMAB):c.568C>T (p.Arg190Cys) rs398124434 0.00002
NM_000069.3(CACNA1S):c.1234C>T (p.Arg412Ter) rs767052156 0.00001
NM_000069.3(CACNA1S):c.1583G>T (p.Arg528Leu) rs80338777 0.00001
NM_000069.3(CACNA1S):c.2269C>T (p.Arg757Ter) rs770073633 0.00001
NM_000069.3(CACNA1S):c.3795G>T (p.Gln1265His) rs201627041 0.00001
NM_000069.3(CACNA1S):c.502C>T (p.Arg168Ter) rs201998231 0.00001
NM_000334.4(SCN4A):c.664C>T (p.Arg222Trp) rs527236148 0.00001
NM_000785.4(CYP27B1):c.1357C>T (p.Arg453Cys) rs767480544 0.00001
NM_001081.4(CUBN):c.1506G>A (p.Trp502Ter) rs145818316 0.00001
NM_001081.4(CUBN):c.3096del (p.Ala1031_Tyr1032insTer) rs386833781 0.00001
NM_001081.4(CUBN):c.703C>T (p.Arg235Ter) rs1461982823 0.00001
NM_001182.5(ALDH7A1):c.1565+1G>T rs1064793830 0.00001
NM_001370658.1(BTD):c.-17+2T>C rs745648160 0.00001
NM_006208.3(ENPP1):c.2608-1G>A rs149828062 0.00001
NM_015506.3(MMACHC):c.388T>C (p.Tyr130His) rs372670428 0.00001
NM_015506.3(MMACHC):c.434dup (p.Ser146fs) rs768978351 0.00001
NM_030943.4(AMN):c.844-1G>C rs969552874 0.00001
NM_000069.3(CACNA1S):c.1401_1414del (p.Asn468fs) rs2102144416
NM_000069.3(CACNA1S):c.1847G>A (p.Trp616Ter) rs1572048220
NM_000069.3(CACNA1S):c.2812del (p.Leu938fs) rs1572038993
NM_000334.4(SCN4A):c.4776G>A (p.Met1592Ile) rs886041805
NM_001081.4(CUBN):c.10462C>T (p.Arg3488Ter) rs201426128
NM_001081.4(CUBN):c.4165del (p.Tyr1389fs) rs774493547
NM_001081.4(CUBN):c.4689_4690delinsAT (p.Cys1563_Ile1564delinsTer) rs2131697094
NM_001081.4(CUBN):c.4973del (p.Asn1658fs) rs1588511533
NM_001370658.1(BTD):c.1181_1192del (p.Tyr394_Val397del) rs397514404
NM_001370658.1(BTD):c.641C>T (p.Thr214Ile) rs587783005
NM_001386140.1(MTTP):c.141del (p.Gly49fs) rs1228389182
NM_001386140.1(MTTP):c.1636_1637dup (p.Ile547fs) rs2110230146
NM_015506.3(MMACHC):c.182G>C (p.Arg61Pro) rs201777449
NM_015506.3(MMACHC):c.310_313del (p.Asp104fs) rs1311416761
NM_015506.3(MMACHC):c.347T>C (p.Leu116Pro) rs121918240
NM_015506.3(MMACHC):c.443_459delinsCTGGGGCTGG (p.Val148fs) rs2149323805
NM_030943.4(AMN):c.760+1G>A rs1555381485

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