List of variants in gene ABCD4 reported as uncertain significance for Methylmalonic acidemia with homocystinuria, type cblJ

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: 116

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HGVS	dbSNP	gnomAD frequency
NM_005050.4(ABCD4):c.1411C>T (p.Arg471Trp)	rs45568335	0.00163
NM_005050.4(ABCD4):c.751C>T (p.Arg251Cys)	rs141868117	0.00150
NM_005050.4(ABCD4):c.406C>T (p.Arg136Trp)	rs145141432	0.00035
NM_005050.4(ABCD4):c.752G>A (p.Arg251His)	rs139315421	0.00034
NM_005050.4(ABCD4):c.1589A>T (p.Gln530Leu)	rs142696207	0.00029
NM_005050.4(ABCD4):c.1465G>A (p.Asp489Asn)	rs139901585	0.00022
NM_005050.4(ABCD4):c.1325G>A (p.Arg442Gln)	rs199986349	0.00019
NM_005050.4(ABCD4):c.565A>G (p.Ser189Gly)	rs183607306	0.00016
NM_005050.4(ABCD4):c.719+6T>C	rs755014125	0.00014
NM_005050.4(ABCD4):c.5C>T (p.Ala2Val)	rs368445200	0.00009
NM_005050.4(ABCD4):c.956A>G (p.Tyr319Cys)	rs201777056	0.00009
NM_005050.4(ABCD4):c.425+6C>T	rs368213518	0.00007
NM_005050.4(ABCD4):c.1028+5G>A	rs533842238	0.00005
NM_005050.4(ABCD4):c.364C>T (p.Leu122Phe)	rs141808601	0.00005
NM_005050.4(ABCD4):c.611T>C (p.Leu204Ser)	rs538521064	0.00005
NM_005050.4(ABCD4):c.1237G>A (p.Glu413Lys)	rs374984401	0.00004
NM_005050.4(ABCD4):c.1346C>T (p.Thr449Met)	rs969369250	0.00004
NM_005050.4(ABCD4):c.362G>A (p.Arg121His)	rs201744101	0.00004
NM_005050.4(ABCD4):c.503C>T (p.Pro168Leu)	rs747354548	0.00004
NM_005050.4(ABCD4):c.1172G>A (p.Arg391Gln)	rs747987460	0.00003
NM_005050.4(ABCD4):c.1096G>A (p.Glu366Lys)	rs771010169	0.00002
NM_005050.4(ABCD4):c.20C>T (p.Ala7Val)	rs763842574	0.00002
NM_005050.4(ABCD4):c.859G>A (p.Val287Ile)	rs764251926	0.00002
NM_005050.4(ABCD4):c.1019A>G (p.Tyr340Cys)	rs1446995315	0.00001
NM_005050.4(ABCD4):c.1093G>T (p.Gly365Cys)	rs201100662	0.00001
NM_005050.4(ABCD4):c.1095C>T (p.Gly365=)	rs546298874	0.00001
NM_005050.4(ABCD4):c.1337A>G (p.Gln446Arg)	rs759539743	0.00001
NM_005050.4(ABCD4):c.1402G>A (p.Gly468Arg)	rs1360319567	0.00001
NM_005050.4(ABCD4):c.1578G>A (p.Pro526=)	rs555792734	0.00001
NM_005050.4(ABCD4):c.1609C>A (p.Leu537Ile)	rs780846855	0.00001
NM_005050.4(ABCD4):c.166G>A (p.Val56Met)	rs2083804334	0.00001
NM_005050.4(ABCD4):c.1752+2T>C	rs151116417	0.00001
NM_005050.4(ABCD4):c.1753-18G>A	rs772567988	0.00001
NM_005050.4(ABCD4):c.1794G>C (p.Trp598Cys)	rs773609274	0.00001
NM_005050.4(ABCD4):c.352C>T (p.His118Tyr)	rs371774856	0.00001
NM_005050.4(ABCD4):c.388T>C (p.Tyr130His)	rs1349388678	0.00001
NM_005050.4(ABCD4):c.463C>T (p.Arg155Trp)	rs373322009	0.00001
NM_005050.4(ABCD4):c.556G>A (p.Gly186Arg)	rs1410990711	0.00001
NM_005050.4(ABCD4):c.644A>G (p.Gln215Arg)	rs1280841182	0.00001
NM_005050.4(ABCD4):c.727C>T (p.His243Tyr)	rs761053363	0.00001
NM_005050.4(ABCD4):c.1006G>A (p.Asp336Asn)
NM_005050.4(ABCD4):c.1009G>A (p.Val337Met)
NM_005050.4(ABCD4):c.1034G>T (p.Gly345Val)
NM_005050.4(ABCD4):c.1040T>C (p.Leu347Pro)
NM_005050.4(ABCD4):c.1049C>T (p.Thr350Met)	rs35073715
NM_005050.4(ABCD4):c.1060A>G (p.Met354Val)
NM_005050.4(ABCD4):c.1124C>T (p.Pro375Leu)
NM_005050.4(ABCD4):c.1190C>G (p.Pro397Arg)
NM_005050.4(ABCD4):c.1255A>G (p.Ile419Val)	rs2081160348
NM_005050.4(ABCD4):c.1265A>G (p.Asn422Ser)
NM_005050.4(ABCD4):c.1283C>T (p.Thr428Ile)	rs945270666
NM_005050.4(ABCD4):c.1306G>A (p.Gly436Ser)	rs2081143591
NM_005050.4(ABCD4):c.1316C>T (p.Thr439Met)	rs200761248
NM_005050.4(ABCD4):c.131T>A (p.Leu44Gln)
NM_005050.4(ABCD4):c.1324C>T (p.Arg442Trp)
NM_005050.4(ABCD4):c.1328-10G>A
NM_005050.4(ABCD4):c.1333G>A (p.Val445Met)
NM_005050.4(ABCD4):c.1352T>C (p.Phe451Ser)	rs1594861158
NM_005050.4(ABCD4):c.1357C>T (p.Pro453Ser)
NM_005050.4(ABCD4):c.1420-3del
NM_005050.4(ABCD4):c.1426T>C (p.Tyr476His)	rs1045211254
NM_005050.4(ABCD4):c.1450G>A (p.Asp484Asn)
NM_005050.4(ABCD4):c.1507-3_1507-2dup	rs746298456
NM_005050.4(ABCD4):c.1520C>A (p.Ala507Glu)
NM_005050.4(ABCD4):c.1528G>C (p.Glu510Gln)
NM_005050.4(ABCD4):c.1559+7_1559+11del	rs1381694360
NM_005050.4(ABCD4):c.157G>A (p.Glu53Lys)	rs2140107509
NM_005050.4(ABCD4):c.1588C>A (p.Gln530Lys)
NM_005050.4(ABCD4):c.1633G>A (p.Ala545Thr)	rs754370477
NM_005050.4(ABCD4):c.1667_1668del (p.Glu556fs)
NM_005050.4(ABCD4):c.1678A>G (p.Ser560Gly)	rs2139698542
NM_005050.4(ABCD4):c.1680C>G (p.Ser560Arg)	rs138753274
NM_005050.4(ABCD4):c.1691G>A (p.Arg564His)	rs1204078851
NM_005050.4(ABCD4):c.1696G>A (p.Gly566Ser)
NM_005050.4(ABCD4):c.1715C>T (p.Thr572Met)
NM_005050.4(ABCD4):c.1743C>G (p.Ser581Arg)
NM_005050.4(ABCD4):c.1774C>T (p.Leu592Phe)	rs2139689489
NM_005050.4(ABCD4):c.1805G>C (p.Arg602Thr)
NM_005050.4(ABCD4):c.1A>G (p.Met1Val)	rs2140174798
NM_005050.4(ABCD4):c.225C>G (p.Asp75Glu)	rs2140093719
NM_005050.4(ABCD4):c.227T>C (p.Leu76Ser)
NM_005050.4(ABCD4):c.23C>T (p.Pro8Leu)
NM_005050.4(ABCD4):c.286-3C>T
NM_005050.4(ABCD4):c.286-7T>A
NM_005050.4(ABCD4):c.379C>T (p.Arg127Cys)
NM_005050.4(ABCD4):c.384G>A (p.Ala128=)
NM_005050.4(ABCD4):c.398A>G (p.Asn133Ser)
NM_005050.4(ABCD4):c.39G>T (p.Arg13Ser)
NM_005050.4(ABCD4):c.400G>A (p.Val134Met)
NM_005050.4(ABCD4):c.40C>G (p.Pro14Ala)	rs972140495
NM_005050.4(ABCD4):c.419A>C (p.Asp140Ala)
NM_005050.4(ABCD4):c.41C>T (p.Pro14Leu)
NM_005050.4(ABCD4):c.434G>T (p.Arg145Leu)	rs150967109
NM_005050.4(ABCD4):c.448G>A (p.Val150Met)	rs574925291
NM_005050.4(ABCD4):c.467A>T (p.Gln156Leu)
NM_005050.4(ABCD4):c.469C>G (p.Leu157Val)
NM_005050.4(ABCD4):c.500C>A (p.Ser167Tyr)	rs778245157
NM_005050.4(ABCD4):c.505T>C (p.Phe169Leu)
NM_005050.4(ABCD4):c.511C>T (p.Leu171Phe)
NM_005050.4(ABCD4):c.619C>A (p.Pro207Thr)
NM_005050.4(ABCD4):c.637G>T (p.Val213Leu)
NM_005050.4(ABCD4):c.664T>C (p.Phe222Leu)
NM_005050.4(ABCD4):c.675G>C (p.Lys225Asn)
NM_005050.4(ABCD4):c.688C>T (p.Arg230Trp)
NM_005050.4(ABCD4):c.714C>G (p.Phe238Leu)
NM_005050.4(ABCD4):c.716A>G (p.Tyr239Cys)
NM_005050.4(ABCD4):c.739A>C (p.Met247Leu)
NM_005050.4(ABCD4):c.754A>G (p.Arg252Gly)
NM_005050.4(ABCD4):c.761A>G (p.Gln254Arg)
NM_005050.4(ABCD4):c.801G>C (p.Glu267Asp)	rs1566959741
NM_005050.4(ABCD4):c.814+6C>T	rs1012967402
NM_005050.4(ABCD4):c.821T>A (p.Ile274Asn)	rs2081908223
NM_005050.4(ABCD4):c.893A>G (p.Tyr298Cys)
NM_005050.4(ABCD4):c.89T>G (p.Val30Gly)	rs2084043062
NM_005050.4(ABCD4):c.979C>G (p.Leu327Val)
NM_005050.4(ABCD4):c.995C>T (p.Thr332Met)

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