ClinVar Miner

List of variants studied for mitochondrial DNA depletion syndrome 6 (hepatocerebral type)

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 82
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HGVS dbSNP gnomAD frequency
NM_002437.5(MPV17):c.462-21T>C rs62130714 0.23408
NM_002437.5(MPV17):c.27G>T (p.Arg9=) rs35244252 0.00420
NM_002437.5(MPV17):c.*229T>C rs527826929 0.00190
NM_002437.5(MPV17):c.239C>T (p.Thr80Ile) rs35759430 0.00108
NM_002437.5(MPV17):c.*34G>A rs147885371 0.00088
NM_002437.5(MPV17):c.*12T>G rs201202659 0.00080
NM_002437.5(MPV17):c.*413A>C rs575276701 0.00054
NM_002437.5(MPV17):c.*54C>T rs189632972 0.00046
NM_002437.5(MPV17):c.180C>A (p.Gly60=) rs377148388 0.00036
NM_002437.5(MPV17):c.156G>A (p.Leu52=) rs142493907 0.00028
NM_002437.5(MPV17):c.*72A>C rs768630067 0.00026
NM_002437.5(MPV17):c.444G>A (p.Leu148=) rs776964645 0.00014
NM_002437.5(MPV17):c.61C>G (p.Leu21Val) rs200504529 0.00013
NM_002437.5(MPV17):c.186+2T>C rs147952488 0.00012
NM_002437.5(MPV17):c.*366C>T rs539574166 0.00010
NM_002437.5(MPV17):c.*80C>T rs200529035 0.00009
NM_002437.5(MPV17):c.191C>G (p.Pro64Arg) rs375401970 0.00008
NM_002437.5(MPV17):c.373C>T (p.Arg125Trp) rs112170670 0.00007
NM_002437.5(MPV17):c.293C>T (p.Pro98Leu) rs267607258 0.00006
NM_002437.5(MPV17):c.*130G>T rs886055896 0.00004
NM_002437.5(MPV17):c.263A>T (p.Lys88Met) rs756530281 0.00004
NM_002437.5(MPV17):c.121C>T (p.Arg41Trp) rs863224072 0.00003
NM_002437.5(MPV17):c.149G>A (p.Arg50Gln) rs121909721 0.00003
NM_002437.5(MPV17):c.451C>T (p.Leu151Phe) rs745609578 0.00002
NM_002437.5(MPV17):c.*194G>A rs886055895 0.00001
NM_002437.5(MPV17):c.*360G>C rs866206271 0.00001
NM_002437.5(MPV17):c.*367G>A rs997952432 0.00001
NM_002437.5(MPV17):c.-6+8G>A rs886055897 0.00001
NM_002437.5(MPV17):c.122G>A (p.Arg41Gln) rs140992482 0.00001
NM_002437.5(MPV17):c.148C>T (p.Arg50Trp) rs121909723 0.00001
NM_002437.5(MPV17):c.206G>A (p.Trp69Ter) rs267607261 0.00001
NM_002437.5(MPV17):c.283G>A (p.Gly95Ser) rs980207020 0.00001
NM_002437.5(MPV17):c.359G>A (p.Trp120Ter) rs121909724 0.00001
NM_002437.5(MPV17):c.390C>G (p.Ala130=) rs760281019 0.00001
NM_002437.5(MPV17):c.408+1G>A rs749361266 0.00001
NM_002437.5(MPV17):c.428T>G (p.Leu143Ter) rs763400903 0.00001
NG_008075.1(MPV17):g.16680_18253delinsCCTG
NM_002437.4(MPV17):c.71-2_79delins4
NM_002437.5(MPV17):c.*188A>G rs1679355078
NM_002437.5(MPV17):c.*347C>T rs144697795
NM_002437.5(MPV17):c.*351C>T rs1679346714
NM_002437.5(MPV17):c.-11G>C rs886055898
NM_002437.5(MPV17):c.106C>T (p.Gln36Ter) rs754051090
NM_002437.5(MPV17):c.107A>C (p.Gln36Pro) rs762327729
NM_002437.5(MPV17):c.122_147del (p.Arg41fs) rs397507438
NM_002437.5(MPV17):c.130C>T (p.Gln44Ter) rs772370243
NM_002437.5(MPV17):c.135del (p.Glu45fs) rs777604559
NM_002437.5(MPV17):c.160A>G (p.Met54Val)
NM_002437.5(MPV17):c.164T>C (p.Val55Ala) rs575558175
NM_002437.5(MPV17):c.197T>A (p.Val66Glu) rs755007721
NM_002437.5(MPV17):c.210C>A (p.Tyr70Ter)
NM_002437.5(MPV17):c.223C>G (p.Arg75Gly) rs370061168
NM_002437.5(MPV17):c.234_242del (p.Gly79_Thr81del) rs267607262
NM_002437.5(MPV17):c.260AGA[1] (p.Lys88del) rs267607263
NM_002437.5(MPV17):c.265A>T (p.Met89Leu)
NM_002437.5(MPV17):c.268TTG[1] (p.Leu91del) rs267607264
NM_002437.5(MPV17):c.275A>G (p.Asp92Gly) rs1057524366
NM_002437.5(MPV17):c.277C>T (p.Gln93Ter) rs1679496794
NM_002437.5(MPV17):c.278A>C (p.Gln93Pro) rs200938111
NM_002437.5(MPV17):c.279+1G>T rs1572543564
NM_002437.5(MPV17):c.280-1dup rs766160589
NM_002437.5(MPV17):c.281G>A (p.Gly94Glu) rs2148215671
NM_002437.5(MPV17):c.284G>A (p.Gly95Asp) rs1260392202
NM_002437.5(MPV17):c.291C>T (p.Ala97=) rs1679491926
NM_002437.5(MPV17):c.293del (p.Pro98fs) rs1553383480
NM_002437.5(MPV17):c.297T>A (p.Cys99Ter) rs1553383467
NM_002437.5(MPV17):c.375G>A (p.Arg125=) rs1064793178
NM_002437.5(MPV17):c.376-1G>A rs1423840146
NM_002437.5(MPV17):c.376-2A>C rs113055360
NM_002437.5(MPV17):c.388G>C (p.Ala130Pro) rs1382428056
NM_002437.5(MPV17):c.403T>A (p.Tyr135Asn) rs1572542541
NM_002437.5(MPV17):c.405C>G (p.Tyr135Ter) rs774833271
NM_002437.5(MPV17):c.408T>G (p.Tyr136Ter) rs1572542511
NM_002437.5(MPV17):c.414dup (p.Pro139fs) rs1572542092
NM_002437.5(MPV17):c.451dup (p.Leu151fs) rs267607267
NM_002437.5(MPV17):c.461G>T (p.Arg154Met) rs886044113
NM_002437.5(MPV17):c.498C>A (p.Asn166Lys) rs121909722
NM_002437.5(MPV17):c.503A>G (p.Tyr168Cys)
NM_002437.5(MPV17):c.509C>T (p.Ser170Phe) rs267607260
NM_002437.5(MPV17):c.62T>G (p.Leu21Arg) rs976220715
NM_002437.5(MPV17):c.67G>C (p.Ala23Pro) rs1572555080
NM_002437.5(MPV17):c.70G>T (p.Gly24Trp) rs121909725

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