ClinVar Miner

List of variants studied for Dilated Cardiomyopathy, Recessive by Invitae

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ClinVar version:
Total variants: 160
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HGVS dbSNP
NC_000001.10:g.(?_16042722)_(16060439_?)dup
NC_000001.11:g.(?_15731879)_(15732738_?)del
NM_015164.4(PLEKHM2):c.1021A>C (p.Ser341Arg)
NM_015164.4(PLEKHM2):c.1050C>T (p.Asp350=) rs370961093
NM_015164.4(PLEKHM2):c.1061G>T (p.Arg354Leu) rs751121316
NM_015164.4(PLEKHM2):c.1061_1063dup (p.Asn355_Gly356insSer)
NM_015164.4(PLEKHM2):c.1065C>T (p.Asn355=) rs377142193
NM_015164.4(PLEKHM2):c.1084C>G (p.Arg362Gly) rs61738983
NM_015164.4(PLEKHM2):c.1085G>A (p.Arg362Gln) rs370612427
NM_015164.4(PLEKHM2):c.1091C>T (p.Ser364Leu)
NM_015164.4(PLEKHM2):c.1092G>A (p.Ser364=) rs770053185
NM_015164.4(PLEKHM2):c.1100C>G (p.Thr367Ser) rs774282688
NM_015164.4(PLEKHM2):c.1110C>T (p.Ala370=) rs547428777
NM_015164.4(PLEKHM2):c.1115C>T (p.Pro372Leu) rs199741495
NM_015164.4(PLEKHM2):c.1118A>G (p.Gln373Arg)
NM_015164.4(PLEKHM2):c.1163G>A (p.Arg388His)
NM_015164.4(PLEKHM2):c.1165T>G (p.Ser389Ala) rs200354338
NM_015164.4(PLEKHM2):c.1177C>G (p.Leu393Val)
NM_015164.4(PLEKHM2):c.1242C>T (p.Ile414=) rs7517033
NM_015164.4(PLEKHM2):c.1251C>T (p.Leu417=) rs749126712
NM_015164.4(PLEKHM2):c.1265A>G (p.Asp422Gly) rs376306853
NM_015164.4(PLEKHM2):c.1286G>A (p.Arg429His) rs61739679
NM_015164.4(PLEKHM2):c.1313G>A (p.Arg438Gln) rs370277036
NM_015164.4(PLEKHM2):c.131G>A (p.Arg44His) rs750819902
NM_015164.4(PLEKHM2):c.1322C>T (p.Ser441Phe) rs373711687
NM_015164.4(PLEKHM2):c.1325C>G (p.Pro442Arg)
NM_015164.4(PLEKHM2):c.1330G>T (p.Asp444Tyr)
NM_015164.4(PLEKHM2):c.1349C>T (p.Pro450Leu) rs200715563
NM_015164.4(PLEKHM2):c.1379C>T (p.Ala460Val) rs1242744565
NM_015164.4(PLEKHM2):c.1405G>A (p.Val469Ile)
NM_015164.4(PLEKHM2):c.1418_1419delinsAT (p.Ser473Asn) rs1571067317
NM_015164.4(PLEKHM2):c.1438G>A (p.Gly480Ser) rs376758113
NM_015164.4(PLEKHM2):c.1495G>T (p.Ala499Ser) rs202014397
NM_015164.4(PLEKHM2):c.1538C>T (p.Thr513Met)
NM_015164.4(PLEKHM2):c.1555G>T (p.Asp519Tyr) rs770377384
NM_015164.4(PLEKHM2):c.1577_2399+159del
NM_015164.4(PLEKHM2):c.1627G>C (p.Glu543Gln) rs1557660279
NM_015164.4(PLEKHM2):c.162G>A (p.Leu54=) rs199666070
NM_015164.4(PLEKHM2):c.1663C>T (p.Arg555Ter)
NM_015164.4(PLEKHM2):c.1671G>T (p.Gln557His) rs373878060
NM_015164.4(PLEKHM2):c.1677C>T (p.Ser559=) rs200036096
NM_015164.4(PLEKHM2):c.1706G>C (p.Gly569Ala) rs1557660418
NM_015164.4(PLEKHM2):c.1738A>G (p.Met580Val) rs375845025
NM_015164.4(PLEKHM2):c.1752G>A (p.Ser584=) rs141219063
NM_015164.4(PLEKHM2):c.1797C>T (p.His599=) rs150750784
NM_015164.4(PLEKHM2):c.1812C>T (p.Asn604=) rs370851992
NM_015164.4(PLEKHM2):c.1833G>T (p.Met611Ile) rs758944920
NM_015164.4(PLEKHM2):c.1848C>T (p.Thr616=) rs375314550
NM_015164.4(PLEKHM2):c.1849G>A (p.Gly617Arg)
NM_015164.4(PLEKHM2):c.1914C>T (p.Leu638=) rs572679523
NM_015164.4(PLEKHM2):c.1921+9C>T rs369417226
NM_015164.4(PLEKHM2):c.1956C>T (p.Ala652=) rs373293972
NM_015164.4(PLEKHM2):c.1957G>A (p.Val653Ile) rs746715478
NM_015164.4(PLEKHM2):c.1976A>G (p.Asp659Gly)
NM_015164.4(PLEKHM2):c.1985C>T (p.Ser662Leu)
NM_015164.4(PLEKHM2):c.2030G>A (p.Arg677His)
NM_015164.4(PLEKHM2):c.2045T>C (p.Leu682Pro)
NM_015164.4(PLEKHM2):c.205G>A (p.Val69Met)
NM_015164.4(PLEKHM2):c.2076-4G>A rs772810642
NM_015164.4(PLEKHM2):c.2090C>G (p.Ser697Cys) rs1476472457
NM_015164.4(PLEKHM2):c.2109C>T (p.Ile703=) rs1172713973
NM_015164.4(PLEKHM2):c.2109del (p.Gly705fs) rs1553161364
NM_015164.4(PLEKHM2):c.2144T>C (p.Leu715Pro) rs1557661974
NM_015164.4(PLEKHM2):c.2147C>T (p.Thr716Met) rs777263405
NM_015164.4(PLEKHM2):c.217C>T (p.Arg73Trp) rs778698313
NM_015164.4(PLEKHM2):c.2182T>C (p.Phe728Leu)
NM_015164.4(PLEKHM2):c.2209-7G>A rs528624714
NM_015164.4(PLEKHM2):c.2211A>G (p.Ala737=) rs116455686
NM_015164.4(PLEKHM2):c.2215G>T (p.Ala739Ser) rs751676919
NM_015164.4(PLEKHM2):c.2224G>A (p.Val742Met) rs531140342
NM_015164.4(PLEKHM2):c.2228G>A (p.Arg743His) rs200700186
NM_015164.4(PLEKHM2):c.2265C>T (p.Asp755=) rs370580485
NM_015164.4(PLEKHM2):c.2282C>T (p.Thr761Met) rs570032250
NM_015164.4(PLEKHM2):c.2302C>A (p.Pro768Thr) rs754341890
NM_015164.4(PLEKHM2):c.2310C>T (p.Gly770=)
NM_015164.4(PLEKHM2):c.2320A>G (p.Lys774Glu) rs1553161495
NM_015164.4(PLEKHM2):c.2329A>G (p.Met777Val) rs181186746
NM_015164.4(PLEKHM2):c.2332C>T (p.Leu778=) rs370220957
NM_015164.4(PLEKHM2):c.2389G>A (p.Val797Met)
NM_015164.4(PLEKHM2):c.2406G>T (p.Gly802=) rs116565708
NM_015164.4(PLEKHM2):c.241G>A (p.Glu81Lys)
NM_015164.4(PLEKHM2):c.2424G>A (p.Pro808=) rs368725345
NM_015164.4(PLEKHM2):c.2454G>A (p.Ser818=) rs753199818
NM_015164.4(PLEKHM2):c.2458A>C (p.Asn820His) rs534045338
NM_015164.4(PLEKHM2):c.2474A>C (p.Gln825Pro) rs1557663567
NM_015164.4(PLEKHM2):c.2518G>A (p.Ala840Thr) rs199578594
NM_015164.4(PLEKHM2):c.2530A>T (p.Ile844Phe) rs770529447
NM_015164.4(PLEKHM2):c.2538C>T (p.Ser846=) rs372464687
NM_015164.4(PLEKHM2):c.2539G>A (p.Asp847Asn)
NM_015164.4(PLEKHM2):c.2543G>T (p.Arg848Leu)
NM_015164.4(PLEKHM2):c.2566G>A (p.Glu856Lys) rs145743094
NM_015164.4(PLEKHM2):c.2571C>T (p.Ser857=) rs72647153
NM_015164.4(PLEKHM2):c.2578G>A (p.Glu860Lys)
NM_015164.4(PLEKHM2):c.2587G>A (p.Glu863Lys) rs1412158115
NM_015164.4(PLEKHM2):c.2614G>T (p.Val872Leu)
NM_015164.4(PLEKHM2):c.2620A>G (p.Lys874Glu)
NM_015164.4(PLEKHM2):c.2626-10C>G rs1186234870
NM_015164.4(PLEKHM2):c.2651G>A (p.Ser884Asn) rs768068764
NM_015164.4(PLEKHM2):c.2677C>A (p.Leu893Ile) rs1249701724
NM_015164.4(PLEKHM2):c.2679C>T (p.Leu893=) rs1465061757
NM_015164.4(PLEKHM2):c.2699C>T (p.Thr900Met)
NM_015164.4(PLEKHM2):c.2700G>A (p.Thr900=) rs763833499
NM_015164.4(PLEKHM2):c.2713T>G (p.Cys905Gly)
NM_015164.4(PLEKHM2):c.2747C>T (p.Ala916Val) rs536599433
NM_015164.4(PLEKHM2):c.2758G>A (p.Asp920Asn) rs200570089
NM_015164.4(PLEKHM2):c.2766C>T (p.Ser922=) rs199811699
NM_015164.4(PLEKHM2):c.2805+3G>A
NM_015164.4(PLEKHM2):c.2816A>T (p.Gln939Leu) rs1170562546
NM_015164.4(PLEKHM2):c.2823C>G (p.Ser941Arg) rs749682801
NM_015164.4(PLEKHM2):c.2828A>G (p.Gln943Arg) rs761674764
NM_015164.4(PLEKHM2):c.2833C>T (p.Leu945Phe) rs535480952
NM_015164.4(PLEKHM2):c.2852A>G (p.Tyr951Cys) rs1553161749
NM_015164.4(PLEKHM2):c.2890G>T (p.Ala964Ser) rs1571076902
NM_015164.4(PLEKHM2):c.2961C>A (p.Asn987Lys) rs189025469
NM_015164.4(PLEKHM2):c.2963del (p.Lys988fs)
NM_015164.4(PLEKHM2):c.2971T>C (p.Phe991Leu) rs201091991
NM_015164.4(PLEKHM2):c.2974G>A (p.Glu992Lys) rs369250576
NM_015164.4(PLEKHM2):c.3020G>A (p.Ser1007Asn) rs933542967
NM_015164.4(PLEKHM2):c.3029G>A (p.Arg1010His)
NM_015164.4(PLEKHM2):c.3035G>A (p.Arg1012Gln) rs533946132
NM_015164.4(PLEKHM2):c.3044G>A (p.Arg1015Gln) rs199904231
NM_015164.4(PLEKHM2):c.357G>C (p.Leu119=) rs201114976
NM_015164.4(PLEKHM2):c.366G>C (p.Lys122Asn)
NM_015164.4(PLEKHM2):c.400G>A (p.Asp134Asn) rs373180239
NM_015164.4(PLEKHM2):c.432C>T (p.Ser144=) rs201860640
NM_015164.4(PLEKHM2):c.461A>T (p.Asp154Val) rs764894986
NM_015164.4(PLEKHM2):c.50C>T (p.Ser17Leu) rs1385246324
NM_015164.4(PLEKHM2):c.51G>A (p.Ser17=) rs370753597
NM_015164.4(PLEKHM2):c.561C>T (p.His187=) rs115985482
NM_015164.4(PLEKHM2):c.562G>A (p.Gly188Ser)
NM_015164.4(PLEKHM2):c.598G>A (p.Val200Ile)
NM_015164.4(PLEKHM2):c.61-7C>T rs76932674
NM_015164.4(PLEKHM2):c.61-7_61-6del rs367663991
NM_015164.4(PLEKHM2):c.631G>A (p.Ala211Thr) rs751230545
NM_015164.4(PLEKHM2):c.632C>T (p.Ala211Val) rs373741350
NM_015164.4(PLEKHM2):c.646A>G (p.Ser216Gly)
NM_015164.4(PLEKHM2):c.658G>A (p.Asp220Asn)
NM_015164.4(PLEKHM2):c.686C>T (p.Pro229Leu)
NM_015164.4(PLEKHM2):c.703G>C (p.Asp235His) rs1553160375
NM_015164.4(PLEKHM2):c.713-5C>A rs200559886
NM_015164.4(PLEKHM2):c.746G>A (p.Arg249His) rs765918617
NM_015164.4(PLEKHM2):c.754G>A (p.Ala252Thr) rs551226298
NM_015164.4(PLEKHM2):c.759C>T (p.Ser253=) rs1260718176
NM_015164.4(PLEKHM2):c.819C>T (p.Asn273=) rs374011612
NM_015164.4(PLEKHM2):c.820G>A (p.Glu274Lys)
NM_015164.4(PLEKHM2):c.820G>C (p.Glu274Gln)
NM_015164.4(PLEKHM2):c.830C>A (p.Ala277Glu)
NM_015164.4(PLEKHM2):c.831A>G (p.Ala277=) rs533457525
NM_015164.4(PLEKHM2):c.891G>C (p.Glu297Asp) rs61738982
NM_015164.4(PLEKHM2):c.892G>A (p.Ala298Thr)
NM_015164.4(PLEKHM2):c.8C>T (p.Pro3Leu)
NM_015164.4(PLEKHM2):c.908C>T (p.Pro303Leu) rs1422101821
NM_015164.4(PLEKHM2):c.909G>A (p.Pro303=) rs753956705
NM_015164.4(PLEKHM2):c.924G>A (p.Thr308=) rs542980745
NM_015164.4(PLEKHM2):c.931G>A (p.Glu311Lys) rs772148348
NM_015164.4(PLEKHM2):c.941+4A>T
NM_015164.4(PLEKHM2):c.941+6C>T
NM_015164.4(PLEKHM2):c.942-3C>T rs138211346
NM_015164.4(PLEKHM2):c.981C>T (p.Ser327=) rs751424826
NM_015164.4(PLEKHM2):c.98C>G (p.Pro33Arg)

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