ClinVar Miner

List of variants reported as likely pathogenic for hereditary skeletal muscle disorder by Mendelics

Included ClinVar conditions (587):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 50
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HGVS dbSNP gnomAD frequency
NM_002693.3(POLG):c.3139C>T (p.Arg1047Trp) rs181860632 0.00010
NM_012470.4(TNPO3):c.1334C>T (p.Ala445Val) rs1585339231 0.00001
NC_000002.11:g.238258810delG rs794729205
NC_000014.9:g.23415255_23415272del rs2138638795
NM_000183.3(HADHB):c.1375G>A (p.Ala459Thr) rs1376342675
NM_000232.5(SGCB):c.753+5G>A rs936193061
NM_000426.4(LAMA2):c.3235T>C (p.Cys1079Arg) rs1583469739
NM_000426.4(LAMA2):c.32T>C (p.Leu11Pro) rs730880252
NM_000426.4(LAMA2):c.8556_8558del (p.Ile2852del) rs398123389
NM_000540.3(RYR1):c.14592CAA[1] (p.Asn4865del) rs2145896801
NM_001077365.2(POMT1):c.2126T>C (p.Leu709Pro) rs776988725
NM_001100.4(ACTA1):c.1004C>G (p.Pro335Arg) rs1057518493
NM_001100.4(ACTA1):c.1127G>T (p.Cys376Phe) rs1571892196
NM_001100.4(ACTA1):c.762C>G (p.Asn254Lys) rs1571892988
NM_001164508.2(NEB):c.10612C>T (p.Arg3538Ter) rs779909544
NM_001164508.2(NEB):c.19102-10_19102-4del rs1577576425
NM_001164508.2(NEB):c.22748C>G (p.Pro7583Arg) rs1575897069
NM_001164508.2(NEB):c.2943G>A (p.Glu981=) rs398124170
NM_001164508.2(NEB):c.8889+1G>A rs1553963960
NM_001294332.1(SDHA):c.[313-449G>C;1405A>G]
NM_001458.5(FLNC):c.710C>T (p.Pro237Leu) rs1585152751
NM_001848.3(COL6A1):c.1575+1G>A rs1002726737
NM_001849.4(COL6A2):c.2192C>T (p.Thr731Met) rs794727419
NM_002693.3(POLG):c.1198G>A (p.Val400Met) rs529639381
NM_004006.3(DMD):c.1129del (p.Asp377fs) rs1602467787
NM_004006.3(DMD):c.1894A>T (p.Lys632Ter) rs1603636541
NM_004006.3(DMD):c.196A>T (p.Lys66Ter) rs1603447072
NM_004006.3(DMD):c.2465_2466del (p.Arg822fs) rs1603634744
NM_004006.3(DMD):c.2529del (p.Glu843fs) rs1603634743
NM_004006.3(DMD):c.2694dup (p.Glu899fs) rs1603634609
NM_004006.3(DMD):c.2803+5G>C rs1603634603
NM_004006.3(DMD):c.3787-2A>G rs1474837238
NM_004006.3(DMD):c.479CCA[1] (p.Thr161del) rs1569528101
NM_004006.3(DMD):c.6290+5G>T
NM_004006.3(DMD):c.6407G>A (p.Trp2136Ter) rs1603628479
NM_004006.3(DMD):c.7309+1G>C rs398124044
NM_004006.3(DMD):c.9649+2dup rs1602695597
NM_004006.3(DMD):c.9959C>T (p.Pro3320Leu) rs1602454639
NM_004006.3(DMD):c.9971dup (p.Arg3325fs) rs1602454605
NM_004168.4(SDHA):c.1549A>G (p.Lys517Glu) rs786205210
NM_004369.4(COL6A3):c.6215_6225del (p.Glu2072fs) rs1574976615
NM_004369.4(COL6A3):c.6309G>C (p.Lys2103Asn) rs1574975196
NM_007126.5(VCP):c.271A>T (p.Asn91Tyr) rs863225291
NM_017739.4(POMGNT1):c.1268C>T (p.Ser423Phe) rs1571655768
NM_017739.4(POMGNT1):c.235+2T>G rs2148218654
NM_017739.4(POMGNT1):c.880-1G>A rs1317832573
NM_018684.4(ZC4H2):c.199C>T (p.Arg67Ter) rs1131691616
NM_032806.6(POMGNT2):c.607_618del (p.Phe203_Tyr206del) rs774277094
NM_152263.4(TPM3):c.43G>A (p.Asp15Asn) rs1553251644
NM_152263.4(TPM3):c.7G>C (p.Glu3Gln) rs1571456678

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