ClinVar Miner

List of variants reported as likely pathogenic for congenital myopathy by Genetic Services Laboratory, University of Chicago

Included ClinVar conditions (289):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 25
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HGVS dbSNP gnomAD frequency
NM_001953.5(TYMP):c.622G>A (p.Val208Met) rs121913039 0.00027
NM_001164508.2(NEB):c.2211+5G>T rs797045736 0.00001
NM_000252.3(MTM1):c.1036T>C (p.Trp346Arg) rs587783750
NM_000252.3(MTM1):c.1180G>C (p.Asp394His) rs587783760
NM_000252.3(MTM1):c.1233G>T (p.Trp411Cys) rs587783764
NM_000252.3(MTM1):c.1234A>G (p.Ile412Val) rs587783765
NM_000252.3(MTM1):c.1260+5G>A rs587783769
NM_000252.3(MTM1):c.1307C>T (p.Pro436Leu) rs587783774
NM_000252.3(MTM1):c.1325T>A (p.Ile442Asn) rs587783776
NM_000252.3(MTM1):c.1328A>C (p.Asp443Ala) rs587783777
NM_000252.3(MTM1):c.1388T>C (p.Leu463Ser) rs587783787
NM_000252.3(MTM1):c.1388T>G (p.Leu463Trp) rs587783787
NM_000252.3(MTM1):c.342+4A>G rs587783820
NM_000252.3(MTM1):c.575A>G (p.Tyr192Cys) rs587783838
NM_000252.3(MTM1):c.63+3A>T rs587783844
NM_000252.3(MTM1):c.676C>A (p.Pro226Thr) rs587783848
NM_000252.3(MTM1):c.743G>T (p.Gly248Val) rs587783853
NM_000252.3(MTM1):c.921CTT[1] (p.Phe308del) rs587783862
NM_001005361.3(DNM2):c.1124T>A (p.Val375Glu) rs587783594
NM_001005361.3(DNM2):c.1880C>G (p.Pro627Arg) rs587783598
NM_001100.4(ACTA1):c.413T>A (p.Ile138Asn) rs587780271
NM_001164508.2(NEB):c.2499del (p.Ala834fs) rs1553564693
NM_001267550.2(TTN):c.98606G>C (p.Arg32869Pro) rs587780495
NM_001927.4(DES):c.1A>G (p.Met1Val) rs1057523274
NM_020451.3(SELENON):c.827_829dup (p.Ala276_Cys277insSer) rs797045950

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