ClinVar Miner

List of variants studied for nutritional disorder by Mendelics

Included ClinVar conditions (116):
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ClinVar version:
Total variants: 74
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HGVS dbSNP gnomAD frequency
NM_000376.3(VDR):c.2T>C (p.Met1Thr) rs2228570 0.66221
NM_000355.4(TCN2):c.776G>C (p.Arg259Pro) rs1801198 0.63049
NM_052845.4(MMAB):c.716T>A (p.Met239Lys) rs9593 0.57816
NM_005050.4(ABCD4):c.184T>C (p.Leu62=) rs2301345 0.29779
NM_000355.4(TCN2):c.643C>T (p.Arg215Trp) rs35838082 0.07162
NM_001370658.1(BTD):c.1270G>C (p.Asp424His) rs13078881 0.03225
NM_001370658.1(BTD):c.820A>G (p.Ile274Val) rs35976361 0.01187
NM_000254.3(MTR):c.155G>A (p.Arg52Gln) rs12749581 0.00417
NC_000005.10:g.126595278A>C rs563928852 0.00308
NM_005912.3(MC4R):c.606C>A (p.Phe202Leu) rs138281308 0.00302
NM_000939.4(POMC):c.706C>G (p.Arg236Gly) rs28932472 0.00286
NM_000939.4(POMC):c.583G>A (p.Ala195Thr) rs141309351 0.00247
NM_005050.4(ABCD4):c.1411C>T (p.Arg471Trp) rs45568335 0.00163
NM_015506.3(MMACHC):c.271dup (p.Arg91fs) rs398124292 0.00093
NM_015506.3(MMACHC):c.316G>A (p.Glu106Lys) rs201617713 0.00081
NM_000069.3(CACNA1S):c.5049-2A>G rs148989517 0.00056
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_001370658.1(BTD):c.1569C>A (p.Asp523Glu) rs146136265 0.00024
NM_007198.4(PLPBP):c.704T>G (p.Val235Gly) rs367850837 0.00014
NM_001370658.1(BTD):c.38G>T (p.Cys13Phe) rs141131444 0.00012
NM_001370658.1(BTD):c.40_41del (p.Gly14fs) rs765906887 0.00012
NM_000370.3(TTPA):c.513_514insTT (p.Thr172fs) rs397515379 0.00010
NM_001081.4(CUBN):c.9053A>C (p.Tyr3018Ser) rs370778353 0.00009
NM_001370658.1(BTD):c.1395C>G (p.His465Gln) rs201604102 0.00009
NM_001370658.1(BTD):c.262A>G (p.Ile88Val) rs976185636 0.00009
NM_002454.3(MTRR):c.903+469T>C rs893229476 0.00007
NM_033440.3(CELA2A):c.209C>T (p.Thr70Met) rs372947070 0.00007
NM_000376.3(VDR):c.217C>T (p.Arg73Ter) rs980041568 0.00004
NM_000376.3(VDR):c.218G>A (p.Arg73Gln) rs121909791 0.00004
NM_016729.3(FOLR1):c.373C>T (p.Arg125Cys) rs752503322 0.00004
NM_001370658.1(BTD):c.908A>G (p.His303Arg) rs397507176 0.00003
NM_000254.3(MTR):c.1559A>G (p.Tyr520Cys) rs1242741686 0.00002
NM_052845.4(MMAB):c.548A>T (p.His183Leu) rs752866643 0.00002
NM_000785.4(CYP27B1):c.1357C>T (p.Arg453Cys) rs767480544 0.00001
NM_001182.5(ALDH7A1):c.1111C>T (p.Pro371Ser) rs1045606047 0.00001
NM_001352514.2(HLCS):c.2585A>C (p.Asp862Ala) rs752737867 0.00001
NM_001370658.1(BTD):c.250-15del rs587783008 0.00001
NM_001370658.1(BTD):c.281G>T (p.Gly94Val) rs375712490 0.00001
NM_001370658.1(BTD):c.40G>A (p.Gly14Ser) rs119103232 0.00001
NM_002454.3(MTRR):c.1361C>T (p.Ser454Leu) rs137853062 0.00001
NM_002454.3(MTRR):c.340C>T (p.Arg114Ter) rs754990692 0.00001
NM_007198.4(PLPBP):c.613C>T (p.Arg205Trp) rs1384327533 0.00001
NM_000069.3(CACNA1S):c.1734G>A (p.Met578Ile) rs1572049461
NM_000069.3(CACNA1S):c.3071T>C (p.Ile1024Thr) rs978624647
NM_000254.3(MTR):c.*16del rs67705775
NM_000254.3(MTR):c.2059_2060del (p.Ile687fs) rs1664521219
NM_000254.3(MTR):c.2482G>A (p.Gly828Ser) rs1413989228
NM_000355.4(TCN2):c.249_255dup (p.Gly86fs) rs1602043738
NM_000370.3(TTPA):c.172G>C (p.Ala58Pro) rs982650476
NM_000370.3(TTPA):c.359-3del rs398123340
NM_000376.3(VDR):c.702C>A (p.Val234=)
NM_000439.5(PCSK1):c.958G>C (p.Asp320His) rs1580755294
NM_000785.4(CYP27B1):c.252_262del (p.Thr85fs) rs2140397692
NM_001081.4(CUBN):c.8599G>C (p.Val2867Leu) rs1588623316
NM_001182.5(ALDH7A1):c.246+7GT[16] rs142510783
NM_001182.5(ALDH7A1):c.509C>T (p.Pro170Leu) rs2112802656
NM_001182.5(ALDH7A1):c.914-118dup rs759132307
NM_001352514.2(HLCS):c.2144G>A (p.Trp715Ter) rs1174060268
NM_001352514.2(HLCS):c.2279T>C (p.Ile760Thr) rs2145731903
NM_001370658.1(BTD):c.1465C>T (p.Pro489Ser) rs1344607767
NM_001370658.1(BTD):c.203del (p.Gln68fs) rs1575013953
NM_001370658.1(BTD):c.304A>G (p.Arg102Gly) rs397514354
NM_001370658.1(BTD):c.44_45del (p.Cys15fs) rs750965140
NM_001370658.1(BTD):c.496T>G (p.Cys166Gly) rs955385869
NM_001370658.1(BTD):c.705C>G (p.Ile235Met) rs1575029719
NM_001370658.1(BTD):c.798del (p.Ala267fs) rs1575029897
NM_001709.5(BDNF):c.5C>T (p.Thr2Ile) rs8192466
NM_005357.4(LIPE):c.3203_3221del (p.Val1068fs) rs587777699
NM_015506.3(MMACHC):c.565C>A (p.Arg189Ser) rs200895671
NM_015702.3(MMADHC):c.136G>C (p.Ala46Pro) rs749521854
NM_016579.4(CD320):c.256GAG[2] (p.Glu88del) rs150384171
NM_021969.3(NR0B2):c.227del (p.Phe76fs) rs779783209
NM_172250.3(MMAA):c.397C>T (p.Gln133Ter) rs754545360

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