ClinVar Miner

List of variants in gene combination GAREM2, HADHA reported as uncertain significance for cardiovascular disorder

Included ClinVar conditions (1435):
Minimum submission review status: Collection method:
Minimum conflict level:
Gene type:
ClinVar version:
Total variants: 108
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HGVS dbSNP gnomAD frequency
NM_000182.5(HADHA):c.*355C>T rs539549041 0.00071
NM_000182.5(HADHA):c.1212G>C (p.Val404=) rs116396996 0.00058
NM_000182.5(HADHA):c.2113G>A (p.Val705Ile) rs146406360 0.00034
NM_000182.5(HADHA):c.1689+11C>T rs367640259 0.00031
NM_000182.5(HADHA):c.1690-13G>A rs368557552 0.00028
NM_000182.5(HADHA):c.*586G>A rs749568626 0.00021
NM_000182.5(HADHA):c.2175C>T (p.Gly725=) rs375399631 0.00021
NM_000182.5(HADHA):c.2131C>A (p.Pro711Thr) rs138966725 0.00020
NM_000182.5(HADHA):c.1217A>G (p.Lys406Arg) rs552191498 0.00012
NM_000182.5(HADHA):c.*239C>T rs1001518961 0.00010
NM_000182.5(HADHA):c.1284C>T (p.Asn428=) rs199535840 0.00009
NM_000182.5(HADHA):c.1655C>T (p.Ala552Val) rs369588406 0.00009
NM_000182.5(HADHA):c.2147-8C>G rs368976628 0.00009
NM_000182.5(HADHA):c.*110G>A rs952439873 0.00008
NM_000182.5(HADHA):c.1515G>A (p.Lys505=) rs543680661 0.00007
NM_000182.5(HADHA):c.1637A>G (p.Tyr546Cys) rs370170143 0.00007
NM_000182.5(HADHA):c.1789A>G (p.Lys597Glu) rs368455378 0.00007
NM_000182.5(HADHA):c.2000+9G>A rs200802583 0.00007
NM_000182.5(HADHA):c.*403C>T rs146210168 0.00006
NM_000182.5(HADHA):c.1947T>A (p.Asn649Lys) rs777153382 0.00005
NM_000182.5(HADHA):c.1141G>A (p.Val381Met) rs764067083 0.00004
NM_000182.5(HADHA):c.1209A>G (p.Gln403=) rs780178287 0.00004
NM_000182.5(HADHA):c.1753G>A (p.Ala585Thr) rs753722938 0.00004
NM_000182.5(HADHA):c.1788G>A (p.Ala596=) rs190409957 0.00004
NM_000182.5(HADHA):c.*182C>T rs1013194171 0.00003
NM_000182.5(HADHA):c.1174G>A (p.Ala392Thr) rs534553558 0.00003
NM_000182.5(HADHA):c.1453G>T (p.Ala485Ser) rs958717402 0.00003
NM_000182.5(HADHA):c.1418C>A (p.Ala473Asp) rs772166712 0.00002
NM_000182.5(HADHA):c.1507G>A (p.Val503Met) rs138386385 0.00002
NM_000182.5(HADHA):c.1596G>C (p.Gln532His) rs1004898768 0.00002
NM_000182.5(HADHA):c.1794T>C (p.His598=) rs149021400 0.00002
NM_000182.5(HADHA):c.1823G>C (p.Gly608Ala) rs1277103504 0.00002
NM_000182.5(HADHA):c.1889G>A (p.Arg630His) rs150850348 0.00002
NM_000182.5(HADHA):c.1912A>G (p.Ile638Val) rs545660610 0.00002
NM_000182.5(HADHA):c.1925G>T (p.Gly642Val) rs766188621 0.00002
NM_000182.5(HADHA):c.2114T>A (p.Val705Asp) rs1240187200 0.00002
NM_000182.5(HADHA):c.*405C>T rs886055859 0.00001
NM_000182.5(HADHA):c.*437T>A rs779402635 0.00001
NM_000182.5(HADHA):c.1196G>A (p.Arg399Gln) rs200715496 0.00001
NM_000182.5(HADHA):c.1325A>T (p.Asp442Val) rs751092349 0.00001
NM_000182.5(HADHA):c.1621-7T>C rs774272303 0.00001
NM_000182.5(HADHA):c.1829G>A (p.Arg610Gln) rs373966336 0.00001
NM_000182.5(HADHA):c.1939G>C (p.Asp647His) rs1669533378 0.00001
NM_000182.5(HADHA):c.1958A>G (p.Asp653Gly) rs1214955457 0.00001
NM_000182.5(HADHA):c.2000T>G (p.Val667Gly) rs1669530550 0.00001
NM_000182.5(HADHA):c.2037A>G (p.Thr679=) rs1231960929 0.00001
NM_000182.5(HADHA):c.2107G>A (p.Gly703Arg) rs200438844 0.00001
NM_000182.5(HADHA):c.2186T>C (p.Ile729Thr) rs143434901 0.00001
NM_000182.5(HADHA):c.2192A>T (p.Asp731Val) rs775428463 0.00001
NM_000182.5(HADHA):c.2193C>A (p.Asp731Glu) rs1348209738 0.00001
NM_000182.5(HADHA):c.2241C>A (p.Cys747Ter) rs768855989 0.00001
NM_000182.5(HADHA):c.*103A>T rs1360388686
NM_000182.5(HADHA):c.*373GT[1] rs886055861
NM_000182.5(HADHA):c.*389C>G rs886055860
NM_000182.5(HADHA):c.*458TG[3] rs146500488
NM_000182.5(HADHA):c.*46G>A rs367911534
NM_000182.5(HADHA):c.*489G>A rs886055857
NM_000182.5(HADHA):c.*494G>T rs886055856
NM_000182.5(HADHA):c.*59C>T rs1669485295
NM_000182.5(HADHA):c.1129G>A (p.Ala377Thr)
NM_000182.5(HADHA):c.1137C>G (p.Val379=) rs1669919221
NM_000182.5(HADHA):c.1162A>T (p.Ile388Leu) rs370054250
NM_000182.5(HADHA):c.1184C>A (p.Thr395Asn) rs778263925
NM_000182.5(HADHA):c.1199G>C (p.Gly400Ala)
NM_000182.5(HADHA):c.1220+2_1220+5dup rs1553313192
NM_000182.5(HADHA):c.1234G>T (p.Val412Leu) rs770219903
NM_000182.5(HADHA):c.1393-3C>T
NM_000182.5(HADHA):c.1393G>C (p.Val465Leu) rs1226499517
NM_000182.5(HADHA):c.1432G>C (p.Ala478Pro) rs1669713015
NM_000182.5(HADHA):c.1480-139C>G
NM_000182.5(HADHA):c.1480-3C>T
NM_000182.5(HADHA):c.1493A>G (p.His498Arg) rs752005568
NM_000182.5(HADHA):c.1538C>T (p.Thr513Met)
NM_000182.5(HADHA):c.1543G>A (p.Glu515Lys) rs763353852
NM_000182.5(HADHA):c.1618A>G (p.Lys540Glu)
NM_000182.5(HADHA):c.1652T>G (p.Leu551Arg)
NM_000182.5(HADHA):c.1667C>G (p.Ser556Cys) rs2147753043
NM_000182.5(HADHA):c.1705AAG[1] (p.Lys570del) rs1553312059
NM_000182.5(HADHA):c.1712T>C (p.Leu571Pro) rs1553312058
NM_000182.5(HADHA):c.1729A>T (p.Ser577Cys)
NM_000182.5(HADHA):c.1745T>C (p.Val582Ala) rs1574602341
NM_000182.5(HADHA):c.1772T>G (p.Val591Gly) rs1574602310
NM_000182.5(HADHA):c.1801G>A (p.Glu601Lys)
NM_000182.5(HADHA):c.1808T>C (p.Leu603Pro)
NM_000182.5(HADHA):c.1812C>T (p.Gly604=)
NM_000182.5(HADHA):c.1828C>G (p.Arg610Gly) rs267599303
NM_000182.5(HADHA):c.1867G>A (p.Val623Met)
NM_000182.5(HADHA):c.1888C>G (p.Arg630Gly)
NM_000182.5(HADHA):c.1917_1919dup (p.Tyr639_Gln640insHis) rs796051971
NM_000182.5(HADHA):c.1931A>G (p.Lys644Arg)
NM_000182.5(HADHA):c.1961G>A (p.Ser654Asn)
NM_000182.5(HADHA):c.1969G>T (p.Ala657Ser) rs374174659
NM_000182.5(HADHA):c.1994C>T (p.Ser665Phe) rs1669530829
NM_000182.5(HADHA):c.2000+5G>C
NM_000182.5(HADHA):c.2005T>G (p.Ser669Ala) rs1669507749
NM_000182.5(HADHA):c.2027G>T (p.Arg676Leu) rs1204190984
NM_000182.5(HADHA):c.2063G>A (p.Cys688Tyr) rs1669504364
NM_000182.5(HADHA):c.2077A>G (p.Ile693Val)
NM_000182.5(HADHA):c.2087C>T (p.Thr696Ile) rs2147749338
NM_000182.5(HADHA):c.2102A>G (p.Asp701Gly) rs1553311698
NM_000182.5(HADHA):c.2146+19G>C
NM_000182.5(HADHA):c.2147-2A>G
NM_000182.5(HADHA):c.2185A>G (p.Ile729Val)
NM_000182.5(HADHA):c.2194C>T (p.Arg732Trp)
NM_000182.5(HADHA):c.2209G>C (p.Glu737Gln)
NM_000182.5(HADHA):c.2215G>T (p.Ala739Ser) rs141164185
NM_000182.5(HADHA):c.2226_2228dup (p.Gln743dup) rs1553311646
NM_000182.5(HADHA):c.2273_2276dup (p.Lys760fs) rs1553311633

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