ClinVar Miner

List of variants in gene MDH2 studied for not provided

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Gene type:
ClinVar version:
Total variants: 345
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HGVS dbSNP gnomAD frequency
NM_005918.4(MDH2):c.734-41T>G rs11972240 0.45490
NM_005918.4(MDH2):c.633+17C>T rs1637037 0.45488
NM_005918.4(MDH2):c.734-157T>C rs2286830 0.45478
NM_005918.4(MDH2):c.633+99C>T rs1637039 0.45459
NM_005918.4(MDH2):c.26C>T (p.Ala9Val) rs6720 0.42987
NM_005918.4(MDH2):c.66+195G>A rs2286829 0.18572
NM_005918.4(MDH2):c.66+34G>T rs2286828 0.18523
NM_005918.4(MDH2):c.*180A>G rs3815457 0.12429
NM_005918.4(MDH2):c.235+10G>A rs79663210 0.07756
NM_005918.4(MDH2):c.902A>G (p.Lys301Arg) rs10256 0.03554
NM_005918.4(MDH2):c.319+165A>G rs115302196 0.02562
NM_005918.4(MDH2):c.633+55C>G rs1540353 0.02536
NM_005918.4(MDH2):c.429G>A (p.Pro143=) rs11538801 0.01103
NM_005918.4(MDH2):c.192G>A (p.Val64=) rs77424348 0.00878
NM_005918.4(MDH2):c.555G>A (p.Lys185=) rs142812282 0.00700
NM_005918.4(MDH2):c.66+17G>A rs189383313 0.00314
NM_005918.4(MDH2):c.415G>A (p.Val139Ile) rs111879470 0.00300
NM_005918.4(MDH2):c.982A>C (p.Lys328Gln) rs144919730 0.00242
NM_005918.4(MDH2):c.555+8C>T rs200420048 0.00184
NM_005918.4(MDH2):c.480G>A (p.Val160=) rs139959689 0.00183
NM_005918.4(MDH2):c.543T>G (p.Val181=) rs61742694 0.00111
NM_005918.4(MDH2):c.177G>A (p.Ala59=) rs148797426 0.00100
NM_005918.4(MDH2):c.999C>T (p.Phe333=) rs146761624 0.00100
NM_005918.4(MDH2):c.399G>T (p.Pro133=) rs61744459 0.00099
NM_005918.4(MDH2):c.633+9A>C rs371439165 0.00080
NM_005918.4(MDH2):c.222A>G (p.Lys74=) rs769743658 0.00026
NM_005918.4(MDH2):c.866C>G (p.Ser289Cys) rs142336603 0.00026
NM_005918.4(MDH2):c.300T>G (p.Ala100=) rs140972058 0.00025
NM_005918.4(MDH2):c.735C>T (p.Gly245=) rs145607211 0.00021
NM_005918.4(MDH2):c.699C>T (p.Ala233=) rs149443188 0.00018
NM_005918.4(MDH2):c.478G>A (p.Val160Met) rs138541865 0.00017
NM_005918.4(MDH2):c.831C>T (p.Phe277=) rs554804269 0.00016
NM_005918.4(MDH2):c.504C>T (p.Gly168=) rs201575534 0.00015
NM_005918.4(MDH2):c.407T>C (p.Met136Thr) rs573925252 0.00014
NM_005918.4(MDH2):c.45C>T (p.Arg15=) rs782800852 0.00013
NM_005918.4(MDH2):c.442A>T (p.Ile148Phe) rs375411208 0.00012
NM_005918.4(MDH2):c.196G>A (p.Ala66Thr) rs141539461 0.00011
NM_005918.4(MDH2):c.235+6G>A rs782756337 0.00011
NM_005918.4(MDH2):c.297G>A (p.Pro99=) rs147689281 0.00011
NM_005918.4(MDH2):c.376G>A (p.Ala126Thr) rs371141951 0.00011
NM_005918.4(MDH2):c.916G>A (p.Gly306Ser) rs373968974 0.00011
NM_005918.4(MDH2):c.756G>A (p.Ala252=) rs201168852 0.00010
NM_005918.4(MDH2):c.909G>C (p.Leu303=) rs376135271 0.00010
NM_005918.4(MDH2):c.417C>T (p.Val139=) rs374670265 0.00009
NM_005918.4(MDH2):c.885+14C>T rs186955837 0.00009
NM_005918.4(MDH2):c.235+11C>T rs200392965 0.00008
NM_005918.4(MDH2):c.561G>C (p.Leu187Phe) rs373660415 0.00008
NM_005918.4(MDH2):c.966G>A (p.Glu322=) rs367928631 0.00007
NM_005918.4(MDH2):c.30C>T (p.Ser10=) rs782755606 0.00006
NM_005918.4(MDH2):c.333C>T (p.Asp111=) rs529395182 0.00006
NM_005918.4(MDH2):c.517G>A (p.Asp173Asn) rs372196070 0.00006
NM_005918.4(MDH2):c.155G>A (p.Arg52His) rs144321556 0.00005
NM_005918.4(MDH2):c.191T>C (p.Val64Ala) rs782339624 0.00005
NM_005918.4(MDH2):c.633+6C>T rs781958562 0.00005
NM_005918.4(MDH2):c.686G>A (p.Arg229Gln) rs373614243 0.00005
NM_005918.4(MDH2):c.733+20C>T rs782732724 0.00005
NM_005918.4(MDH2):c.244G>A (p.Gly82Arg) rs1400068042 0.00004
NM_005918.4(MDH2):c.509C>T (p.Thr170Met) rs782459104 0.00004
NM_005918.4(MDH2):c.580G>A (p.Val194Ile) rs574256155 0.00004
NM_005918.4(MDH2):c.659A>G (p.Gln220Arg) rs782549244 0.00004
NM_005918.4(MDH2):c.66+14G>T rs923122072 0.00004
NM_005918.4(MDH2):c.727G>A (p.Gly243Arg) rs139907444 0.00004
NM_005918.4(MDH2):c.734-5C>A rs370375376 0.00004
NM_005918.4(MDH2):c.792T>C (p.Asp264=) rs371815614 0.00004
NM_005918.4(MDH2):c.913A>G (p.Ile305Val) rs370912885 0.00004
NM_005918.4(MDH2):c.22C>G (p.Pro8Ala) rs977422153 0.00003
NM_005918.4(MDH2):c.398C>T (p.Pro133Leu) rs375002796 0.00003
NM_005918.4(MDH2):c.485A>G (p.Asn162Ser) rs782730584 0.00003
NM_005918.4(MDH2):c.510G>A (p.Thr170=) rs148014202 0.00003
NM_005918.4(MDH2):c.633+7G>A rs200127047 0.00003
NM_005918.4(MDH2):c.67-6T>C rs782688703 0.00003
NM_005918.4(MDH2):c.733+3A>T rs782068450 0.00003
NM_005918.4(MDH2):c.932T>C (p.Phe311Ser) rs782353063 0.00003
NM_005918.4(MDH2):c.328C>T (p.Arg110Trp) rs782472423 0.00002
NM_005918.4(MDH2):c.404C>G (p.Ala135Gly) rs782560214 0.00002
NM_005918.4(MDH2):c.638C>A (p.Thr213Asn) rs782787769 0.00002
NM_005918.4(MDH2):c.66+11C>T rs782287447 0.00002
NM_005918.4(MDH2):c.66+15G>A rs1410019858 0.00002
NM_005918.4(MDH2):c.700G>A (p.Gly234Ser) rs539290697 0.00002
NM_005918.4(MDH2):c.873G>A (p.Pro291=) rs782097820 0.00002
NM_005918.4(MDH2):c.133A>C (p.Lys45Gln) rs1554585969 0.00001
NM_005918.4(MDH2):c.168T>C (p.Tyr56=) rs782057861 0.00001
NM_005918.4(MDH2):c.195C>T (p.Ala65=) rs371066346 0.00001
NM_005918.4(MDH2):c.225C>T (p.Ala75=) rs781942767 0.00001
NM_005918.4(MDH2):c.226G>A (p.Ala76Thr) rs375592605 0.00001
NM_005918.4(MDH2):c.258G>A (p.Leu86=) rs781951153 0.00001
NM_005918.4(MDH2):c.2T>C (p.Met1Thr) rs1306515179 0.00001
NM_005918.4(MDH2):c.359T>C (p.Ile120Thr) rs1441060228 0.00001
NM_005918.4(MDH2):c.368C>T (p.Thr123Ile) rs535960604 0.00001
NM_005918.4(MDH2):c.36T>C (p.Ala12=) rs1202158789 0.00001
NM_005918.4(MDH2):c.375C>T (p.Thr125=) rs782365031 0.00001
NM_005918.4(MDH2):c.397C>G (p.Pro133Ala) rs1446009960 0.00001
NM_005918.4(MDH2):c.3G>A (p.Met1Ile) rs1554584421 0.00001
NM_005918.4(MDH2):c.421G>A (p.Ala141Thr) rs782204186 0.00001
NM_005918.4(MDH2):c.429+19G>A rs782028807 0.00001
NM_005918.4(MDH2):c.429+1G>T rs782251807 0.00001
NM_005918.4(MDH2):c.46A>G (p.Ser16Gly) rs781786949 0.00001
NM_005918.4(MDH2):c.492C>T (p.Asn164=) rs782771848 0.00001
NM_005918.4(MDH2):c.505G>A (p.Val169Met) rs145207041 0.00001
NM_005918.4(MDH2):c.513C>T (p.Thr171=) rs1797914602 0.00001
NM_005918.4(MDH2):c.522C>T (p.Ile174=) rs782299457 0.00001
NM_005918.4(MDH2):c.555+3A>G rs146056664 0.00001
NM_005918.4(MDH2):c.579C>T (p.Asn193=) rs781895477 0.00001
NM_005918.4(MDH2):c.641C>T (p.Pro214Leu) rs146302743 0.00001
NM_005918.4(MDH2):c.66+19G>A rs1470638627 0.00001
NM_005918.4(MDH2):c.704C>T (p.Thr235Met) rs368008244 0.00001
NM_005918.4(MDH2):c.733+2T>C rs1324318602 0.00001
NM_005918.4(MDH2):c.734-6C>G rs1554587577 0.00001
NM_005918.4(MDH2):c.750C>T (p.Ser250=) rs782265872 0.00001
NM_005918.4(MDH2):c.763G>A (p.Gly255Ser) rs782332733 0.00001
NM_005918.4(MDH2):c.825T>C (p.Cys275=) rs782299988 0.00001
NM_005918.4(MDH2):c.832G>A (p.Val278Ile) rs530821789 0.00001
NM_005918.4(MDH2):c.849G>A (p.Thr283=) rs782317765 0.00001
NM_005918.4(MDH2):c.859T>C (p.Tyr287His) rs374797940 0.00001
NM_005918.4(MDH2):c.87G>T (p.Val29=) rs782461596 0.00001
NM_005918.4(MDH2):c.885+5G>A rs552544806 0.00001
NM_005918.4(MDH2):c.894C>T (p.Gly298=) rs782549785 0.00001
NM_005918.4(MDH2):c.898G>A (p.Glu300Lys) rs373091398 0.00001
NM_005918.4(MDH2):c.915C>T (p.Ile305=) rs782286531 0.00001
NM_005918.4(MDH2):c.950C>T (p.Ser317Leu) rs530298388 0.00001
GRCh37/hg19 7q11.23(chr7:75680491-75802523)x1
NC_000007.13:g.(?_75677479)_(75684336_?)del
NC_000007.13:g.(?_75677479)_(75687416_?)del
NC_000007.13:g.(?_75677479)_(75687416_?)dup
NC_000007.13:g.(?_75684128)_(75684336_?)del
NC_000007.13:g.(?_75692813)_(75692930_?)del
NM_005918.4(MDH2):c.1000G>A (p.Val334Met)
NM_005918.4(MDH2):c.1000G>T (p.Val334Leu) rs140381447
NM_005918.4(MDH2):c.1002G>A (p.Val334=)
NM_005918.4(MDH2):c.1004del (p.Lys335fs) rs1289718858
NM_005918.4(MDH2):c.1005G>C (p.Lys335Asn)
NM_005918.4(MDH2):c.102A>C (p.Gly34=)
NM_005918.4(MDH2):c.108C>T (p.Ile36=)
NM_005918.4(MDH2):c.114G>A (p.Gln38=) rs1585402381
NM_005918.4(MDH2):c.129_131del (p.Leu44del)
NM_005918.4(MDH2):c.12C>A (p.Ala4=)
NM_005918.4(MDH2):c.138C>G (p.Asn46Lys) rs115117282
NM_005918.4(MDH2):c.138C>T (p.Asn46=) rs115117282
NM_005918.4(MDH2):c.142C>T (p.Pro48Ser)
NM_005918.4(MDH2):c.144C>A (p.Pro48=)
NM_005918.4(MDH2):c.146T>C (p.Leu49Ser)
NM_005918.4(MDH2):c.154C>T (p.Arg52Cys)
NM_005918.4(MDH2):c.157dup (p.Leu53fs) rs782759642
NM_005918.4(MDH2):c.15C>T (p.Leu5=)
NM_005918.4(MDH2):c.167_168del (p.Leu55_Tyr56insTer) rs782494815
NM_005918.4(MDH2):c.16G>C (p.Ala6Pro) rs11538800
NM_005918.4(MDH2):c.172A>G (p.Ile58Val)
NM_005918.4(MDH2):c.174C>T (p.Ile58=)
NM_005918.4(MDH2):c.179A>C (p.His60Pro)
NM_005918.4(MDH2):c.186C>T (p.Pro62=) rs142434438
NM_005918.4(MDH2):c.18C>T (p.Ala6=)
NM_005918.4(MDH2):c.204G>A (p.Leu68=)
NM_005918.4(MDH2):c.205dup (p.Ser69fs)
NM_005918.4(MDH2):c.20G>A (p.Arg7Gln) rs751504529
NM_005918.4(MDH2):c.226G>T (p.Ala76Ser) rs375592605
NM_005918.4(MDH2):c.228T>C (p.Ala76=) rs1797727232
NM_005918.4(MDH2):c.235+12G>A
NM_005918.4(MDH2):c.235+17C>T
NM_005918.4(MDH2):c.235+7G>A
NM_005918.4(MDH2):c.235+9C>T
NM_005918.4(MDH2):c.236-13G>A
NM_005918.4(MDH2):c.236-13G>T
NM_005918.4(MDH2):c.236-14G>C
NM_005918.4(MDH2):c.236-17_236-15del
NM_005918.4(MDH2):c.236-2A>C rs2116673209
NM_005918.4(MDH2):c.236-4C>G
NM_005918.4(MDH2):c.243C>T (p.Leu81=)
NM_005918.4(MDH2):c.249T>A (p.Pro83=)
NM_005918.4(MDH2):c.255G>A (p.Gln85=)
NM_005918.4(MDH2):c.262G>A (p.Asp88Asn)
NM_005918.4(MDH2):c.268C>G (p.Leu90Val)
NM_005918.4(MDH2):c.279T>C (p.Cys93=)
NM_005918.4(MDH2):c.282T>A (p.Asp94Glu)
NM_005918.4(MDH2):c.286G>A (p.Val96Ile)
NM_005918.4(MDH2):c.296C>T (p.Pro99Leu)
NM_005918.4(MDH2):c.309C>T (p.Pro103=)
NM_005918.4(MDH2):c.30C>G (p.Ser10Arg)
NM_005918.4(MDH2):c.314A>G (p.Lys105Arg)
NM_005918.4(MDH2):c.315G>A (p.Lys105=) rs2116673668
NM_005918.4(MDH2):c.319+15G>T rs2116673725
NM_005918.4(MDH2):c.319+20G>A
NM_005918.4(MDH2):c.320-14T>C
NM_005918.4(MDH2):c.320-15T>C
NM_005918.4(MDH2):c.320-17T>C
NM_005918.4(MDH2):c.320-1G>A
NM_005918.4(MDH2):c.320-9C>T
NM_005918.4(MDH2):c.321C>T (p.Gly107=)
NM_005918.4(MDH2):c.326C>T (p.Thr109Ile) rs945331698
NM_005918.4(MDH2):c.327C>T (p.Thr109=)
NM_005918.4(MDH2):c.329G>A (p.Arg110Gln)
NM_005918.4(MDH2):c.339G>C (p.Leu113=)
NM_005918.4(MDH2):c.350A>G (p.Asn117Ser)
NM_005918.4(MDH2):c.356C>T (p.Thr119Met)
NM_005918.4(MDH2):c.370C>G (p.Leu124Val) rs1585405844
NM_005918.4(MDH2):c.375C>A (p.Thr125=)
NM_005918.4(MDH2):c.399G>A (p.Pro133=) rs61744459
NM_005918.4(MDH2):c.414C>T (p.Cys138=)
NM_005918.4(MDH2):c.416T>C (p.Val139Ala) rs1554586536
NM_005918.4(MDH2):c.425A>G (p.Asn142Ser)
NM_005918.4(MDH2):c.428C>T (p.Pro143Leu)
NM_005918.4(MDH2):c.429+18C>T
NM_005918.4(MDH2):c.42C>T (p.Arg14=)
NM_005918.4(MDH2):c.430-19T>C rs1797910408
NM_005918.4(MDH2):c.440C>G (p.Thr147Ser)
NM_005918.4(MDH2):c.447C>T (p.Pro149=)
NM_005918.4(MDH2):c.450C>G (p.Ile150Met)
NM_005918.4(MDH2):c.456A>G (p.Ala152=)
NM_005918.4(MDH2):c.457G>C (p.Glu153Gln) rs2116684468
NM_005918.4(MDH2):c.459A>G (p.Glu153=)
NM_005918.4(MDH2):c.460G>C (p.Val154Leu)
NM_005918.4(MDH2):c.479T>C (p.Val160Ala)
NM_005918.4(MDH2):c.488C>A (p.Pro163His)
NM_005918.4(MDH2):c.489del (p.Asn164fs)
NM_005918.4(MDH2):c.48C>T (p.Ser16=)
NM_005918.4(MDH2):c.501C>T (p.Phe167=) rs1408421746
NM_005918.4(MDH2):c.502G>A (p.Gly168Ser)
NM_005918.4(MDH2):c.516G>A (p.Leu172=)
NM_005918.4(MDH2):c.523G>A (p.Val175Ile)
NM_005918.4(MDH2):c.529G>A (p.Ala177Thr)
NM_005918.4(MDH2):c.537C>G (p.Thr179=)
NM_005918.4(MDH2):c.543del (p.Ala182fs)
NM_005918.4(MDH2):c.552G>A (p.Leu184=)
NM_005918.4(MDH2):c.555+11C>T
NM_005918.4(MDH2):c.555+12G>A
NM_005918.4(MDH2):c.555+16G>T rs781832387
NM_005918.4(MDH2):c.556-18T>G rs943852379
NM_005918.4(MDH2):c.556-21G>T rs1465296
NM_005918.4(MDH2):c.556-4C>A
NM_005918.4(MDH2):c.556-4C>G
NM_005918.4(MDH2):c.565C>G (p.Pro189Ala) rs782733818
NM_005918.4(MDH2):c.572G>A (p.Arg191Gln) rs201528060
NM_005918.4(MDH2):c.576C>T (p.Val192=)
NM_005918.4(MDH2):c.577A>G (p.Asn193Asp)
NM_005918.4(MDH2):c.581T>C (p.Val194Ala)
NM_005918.4(MDH2):c.582C>G (p.Val194=) rs1585412033
NM_005918.4(MDH2):c.590T>C (p.Ile197Thr)
NM_005918.4(MDH2):c.591del (p.Ile197fs) rs2116696690
NM_005918.4(MDH2):c.60G>A (p.Ser20=)
NM_005918.4(MDH2):c.617T>A (p.Ile206Asn)
NM_005918.4(MDH2):c.617T>G (p.Ile206Ser)
NM_005918.4(MDH2):c.618C>A (p.Ile206=)
NM_005918.4(MDH2):c.627C>G (p.Ile209Met) rs2116697003
NM_005918.4(MDH2):c.628T>G (p.Ser210Ala)
NM_005918.4(MDH2):c.62C>T (p.Ala21Val)
NM_005918.4(MDH2):c.633+11A>T
NM_005918.4(MDH2):c.633+16_633+17delinsTT
NM_005918.4(MDH2):c.633+18T>C
NM_005918.4(MDH2):c.633+1G>A
NM_005918.4(MDH2):c.633+5dup
NM_005918.4(MDH2):c.634-11T>G
NM_005918.4(MDH2):c.634-12C>T
NM_005918.4(MDH2):c.634-5T>C
NM_005918.4(MDH2):c.635G>A (p.Cys212Tyr) rs1040576163
NM_005918.4(MDH2):c.657C>T (p.Pro219=)
NM_005918.4(MDH2):c.66+12G>C rs2116624564
NM_005918.4(MDH2):c.66+14G>A rs923122072
NM_005918.4(MDH2):c.66+17G>T
NM_005918.4(MDH2):c.66+19G>C
NM_005918.4(MDH2):c.66+3A>C
NM_005918.4(MDH2):c.663C>T (p.Asp221=)
NM_005918.4(MDH2):c.666G>A (p.Gln222=)
NM_005918.4(MDH2):c.66G>C (p.Gln22His)
NM_005918.4(MDH2):c.672A>C (p.Thr224=)
NM_005918.4(MDH2):c.680C>T (p.Thr227Ile)
NM_005918.4(MDH2):c.684G>A (p.Gly228=)
NM_005918.4(MDH2):c.685C>G (p.Arg229Gly) rs139870141
NM_005918.4(MDH2):c.685C>T (p.Arg229Trp)
NM_005918.4(MDH2):c.687G>A (p.Arg229=)
NM_005918.4(MDH2):c.689T>C (p.Ile230Thr)
NM_005918.4(MDH2):c.690C>G (p.Ile230Met) rs2116700329
NM_005918.4(MDH2):c.705G>A (p.Thr235=)
NM_005918.4(MDH2):c.712G>A (p.Val238Ile)
NM_005918.4(MDH2):c.71A>G (p.Asn24Ser)
NM_005918.4(MDH2):c.725C>T (p.Ala242Val)
NM_005918.4(MDH2):c.726C>T (p.Ala242=)
NM_005918.4(MDH2):c.72T>C (p.Asn24=)
NM_005918.4(MDH2):c.733+19C>T
NM_005918.4(MDH2):c.733+5A>T rs1554587495
NM_005918.4(MDH2):c.733+5_733+6del rs1459822297
NM_005918.4(MDH2):c.734-18C>T
NM_005918.4(MDH2):c.734-19C>T
NM_005918.4(MDH2):c.734-1G>C
NM_005918.4(MDH2):c.734-20A>G
NM_005918.4(MDH2):c.734-3T>C
NM_005918.4(MDH2):c.734-4C>T
NM_005918.4(MDH2):c.734-4dup
NM_005918.4(MDH2):c.734-6C>T rs1554587577
NM_005918.4(MDH2):c.734-9C>T
NM_005918.4(MDH2):c.743C>T (p.Thr248Ile)
NM_005918.4(MDH2):c.744C>T (p.Thr248=)
NM_005918.4(MDH2):c.745C>T (p.Leu249Phe)
NM_005918.4(MDH2):c.751A>G (p.Met251Val)
NM_005918.4(MDH2):c.75T>C (p.Ala25=)
NM_005918.4(MDH2):c.762C>T (p.Ala254=)
NM_005918.4(MDH2):c.765C>T (p.Gly255=)
NM_005918.4(MDH2):c.766G>A (p.Ala256Thr)
NM_005918.4(MDH2):c.767C>T (p.Ala256Val) rs896425042
NM_005918.4(MDH2):c.770G>A (p.Arg257His)
NM_005918.4(MDH2):c.782C>A (p.Ser261Tyr)
NM_005918.4(MDH2):c.78A>G (p.Lys26=)
NM_005918.4(MDH2):c.790G>A (p.Asp264Asn) rs368561351
NM_005918.4(MDH2):c.796A>G (p.Met266Val)
NM_005918.4(MDH2):c.79G>A (p.Val27Ile)
NM_005918.4(MDH2):c.807G>A (p.Lys269=) rs1176165729
NM_005918.4(MDH2):c.807G>C (p.Lys269Asn) rs1176165729
NM_005918.4(MDH2):c.808G>C (p.Glu270Gln)
NM_005918.4(MDH2):c.811G>T (p.Gly271Cys)
NM_005918.4(MDH2):c.823T>C (p.Cys275Arg)
NM_005918.4(MDH2):c.844G>A (p.Glu282Lys) rs2116703200
NM_005918.4(MDH2):c.848C>T (p.Thr283Met)
NM_005918.4(MDH2):c.854G>C (p.Cys285Ser) rs148746442
NM_005918.4(MDH2):c.855T>C (p.Cys285=)
NM_005918.4(MDH2):c.862T>C (p.Phe288Leu)
NM_005918.4(MDH2):c.872C>T (p.Pro291Leu)
NM_005918.4(MDH2):c.877C>T (p.Leu293=)
NM_005918.4(MDH2):c.87G>A (p.Val29=) rs782461596
NM_005918.4(MDH2):c.885+15G>A
NM_005918.4(MDH2):c.885+77del rs3214335
NM_005918.4(MDH2):c.885+7A>G rs372862264
NM_005918.4(MDH2):c.886-11A>G
NM_005918.4(MDH2):c.886-11A>T rs2116707979
NM_005918.4(MDH2):c.886-16T>C
NM_005918.4(MDH2):c.886-19A>G
NM_005918.4(MDH2):c.886-20C>T
NM_005918.4(MDH2):c.886-3C>A rs2116707990
NM_005918.4(MDH2):c.886A>C (p.Lys296Gln) rs201419515
NM_005918.4(MDH2):c.886A>G (p.Lys296Glu) rs201419515
NM_005918.4(MDH2):c.890dup (p.Ile299fs)
NM_005918.4(MDH2):c.892G>A (p.Gly298Ser)
NM_005918.4(MDH2):c.897C>A (p.Ile299=)
NM_005918.4(MDH2):c.897C>T (p.Ile299=)
NM_005918.4(MDH2):c.900G>C (p.Glu300Asp)
NM_005918.4(MDH2):c.912C>T (p.Gly304=)
NM_005918.4(MDH2):c.917G>C (p.Gly306Ala)
NM_005918.4(MDH2):c.937G>C (p.Glu313Gln)
NM_005918.4(MDH2):c.941A>T (p.Lys314Met)
NM_005918.4(MDH2):c.945G>C (p.Met315Ile)
NM_005918.4(MDH2):c.951G>A (p.Ser317=) rs140818187
NM_005918.4(MDH2):c.951G>C (p.Ser317=) rs140818187
NM_005918.4(MDH2):c.961C>G (p.Pro321Ala)
NM_005918.4(MDH2):c.963C>T (p.Pro321=)
NM_005918.4(MDH2):c.96C>G (p.Ala32=)
NM_005918.4(MDH2):c.96C>T (p.Ala32=)
NM_005918.4(MDH2):c.974C>T (p.Ala325Val)
NM_005918.4(MDH2):c.98C>G (p.Ser33Cys)

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