ClinVar Miner

List of variants studied for congenital myopathy by Undiagnosed Diseases Network, NIH

Included ClinVar conditions (280):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 19
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HGVS dbSNP gnomAD frequency
NM_020451.3(SELENON):c.943G>A (p.Gly315Ser) rs121908188 0.00030
NM_001267550.2(TTN):c.82402A>C (p.Lys27468Gln) rs201958805 0.00027
NM_004168.4(SDHA):c.91C>T (p.Arg31Ter) rs142441643 0.00025
NM_018116.4(MSTO1):c.971C>T (p.Thr324Ile) rs622288 0.00004
NM_004168.4(SDHA):c.454G>A (p.Glu152Lys) rs778737664 0.00003
NM_004618.5(TOP3A):c.1723A>G (p.Met575Val) rs372121045 0.00002
NM_024854.5(PYROXD1):c.464A>G (p.Asn155Ser) rs781565158 0.00002
NM_020451.3(SELENON):c.872G>A (p.Arg291Gln) rs199564797 0.00001
NC_012920.1(MT-ND1):m.3502T>C rs1603218987
NM_001267550.2(TTN):c.102956_102958del (p.Thr34319del) rs878854378
NM_001267550.2(TTN):c.62722C>T (p.Arg20908Ter) rs543860009
NM_001848.3(COL6A1):c.809_811del (p.Glu270_Arg271delinsGly) rs1569518070
NM_001848.3(COL6A1):c.930+189C>T rs1556425596
NM_001927.4(DES):c.1255_1271del (p.Pro419fs) rs1553603732
NM_004618.5(TOP3A):c.899_900del (p.Tyr300fs) rs1597981046
NM_017534.6(MYH2):c.5673+1G>C rs1400481053
NM_018116.4(MSTO1):c.676C>T (p.Gln226Ter) rs1208636573
NM_020451.3(SELENON):c.1112G>A (p.Gly371Asp) rs745886248
m.8344A>G rs118192098

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