List of variants reported as likely pathogenic for congenital myopathy by Women's Health and Genetics/Laboratory Corporation of America, LabCorp

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		ClinVar version:

Total variants: 81

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HGVS	dbSNP	gnomAD frequency
NM_001164508.2(NEB):c.23989C>T (p.Arg7997Ter)	rs549794342	0.00061
NM_001164508.2(NEB):c.11333T>C (p.Ile3778Thr)	rs200270156	0.00009
NM_001164508.2(NEB):c.22590+2T>C	rs200449517	0.00009
NM_001164508.2(NEB):c.24113C>A (p.Ser8038Ter)	rs1458048713	0.00006
NM_018116.4(MSTO1):c.971C>T (p.Thr324Ile)	rs622288	0.00004
NM_001164508.2(NEB):c.18472-1G>C	rs1203257517	0.00003
NM_001164508.2(NEB):c.20659C>T (p.Arg6887Ter)	rs749452641	0.00003
NM_020451.3(SELENON):c.1010+1G>A	rs908682527	0.00003
NM_001267550.2(TTN):c.102214T>C (p.Trp34072Arg)	rs375159973	0.00002
NM_000183.3(HADHB):c.255-2A>G	rs1220650950	0.00001
NM_000183.3(HADHB):c.583C>T (p.Arg195Ter)	rs552292698	0.00001
NM_001164508.2(NEB):c.1849del (p.Asp617fs)	rs755531536	0.00001
NM_001164508.2(NEB):c.20577+2T>C	rs1185654671	0.00001
NM_001164508.2(NEB):c.20787+2T>C	rs1337287633	0.00001
NM_001164508.2(NEB):c.21793C>T (p.Arg7265Ter)	rs750900690	0.00001
NM_001164508.2(NEB):c.22170C>G (p.Tyr7390Ter)	rs748922882	0.00001
NM_001164508.2(NEB):c.22489C>T (p.Arg7497Ter)	rs760935667	0.00001
NM_001164508.2(NEB):c.24353_24356dup (p.Met8119fs)	rs1257495033	0.00001
NM_001164508.2(NEB):c.294+2T>C	rs773952935	0.00001
NM_001164508.2(NEB):c.3879+1G>A	rs746999970	0.00001
NM_001164508.2(NEB):c.6937C>T (p.Arg2313Ter)	rs756363951	0.00001
NM_001164508.2(NEB):c.7228-1G>A	rs1057516996	0.00001
NM_020451.3(SELENON):c.481C>T (p.Arg161Ter)	rs778603129	0.00001
NM_020451.3(SELENON):c.565C>T (p.Arg189Ter)	rs775713184	0.00001
NM_021830.5(TWNK):c.1120C>T (p.Arg374Trp)	rs267606682	0.00001
NC_000002.11:g.(152465191_152466322)_(152563512_152566169)del
NC_000002.11:g.(238247761_238249094)_(238257307_238258789)del
NC_000002.11:g.(26467859_26477114)_(26477343_26486247)del
NM_000182.5(HADHA):c.180+1G>A	rs786205088
NM_000182.5(HADHA):c.1981_1999del (p.Leu661fs)	rs749848370
NM_000182.5(HADHA):c.2225_2228dup (p.Phe744fs)	rs868816467
NM_000183.3(HADHB):c.811+1G>A
NM_000252.3(MTM1):c.688T>C (p.Trp230Arg)	rs398123274
NM_001100.4(ACTA1):c.49G>C (p.Gly17Arg)	rs121909521
NM_001164508.2(NEB):c.1035+1G>A
NM_001164508.2(NEB):c.10438_10442del (p.Ile3480fs)
NM_001164508.2(NEB):c.14827-2A>C
NM_001164508.2(NEB):c.16704+1G>A	rs1227806763
NM_001164508.2(NEB):c.18024_18027del (p.Val6009fs)	rs748358450
NM_001164508.2(NEB):c.18918G>A (p.Trp6306Ter)	rs1559952676
NM_001164508.2(NEB):c.19156G>T (p.Glu6386Ter)	rs2153702280
NM_001164508.2(NEB):c.19519A>T (p.Lys6507Ter)
NM_001164508.2(NEB):c.19626+1G>A	rs756352186
NM_001164508.2(NEB):c.20554G>T (p.Glu6852Ter)	rs777819332
NM_001164508.2(NEB):c.2079C>A (p.Cys693Ter)
NM_001164508.2(NEB):c.20975_20976del (p.Lys6992fs)	rs1559680233
NM_001164508.2(NEB):c.21141del (p.Ile7047fs)	rs2093339890
NM_001164508.2(NEB):c.2310+5G>A
NM_001164508.2(NEB):c.23140C>T (p.Arg7714Ter)	rs1575714905
NM_001164508.2(NEB):c.23628_23631del (p.Gln7876fs)	rs1161478770
NM_001164508.2(NEB):c.24339_24342del (p.Pro8114fs)	rs934111355
NM_001164508.2(NEB):c.24911_24914dup (p.Phe8305fs)	rs2152822941
NM_001164508.2(NEB):c.25214del (p.Gly8405fs)	rs1553520266
NM_001164508.2(NEB):c.25297+1G>A	rs113525641
NM_001164508.2(NEB):c.3252_3255+3del	rs1559168230
NM_001164508.2(NEB):c.3987+1G>A	rs780022652
NM_001164508.2(NEB):c.4337G>T (p.Gly1446Val)	rs541803470
NM_001164508.2(NEB):c.5722del (p.Ser1908fs)	rs1553484601
NM_001164508.2(NEB):c.6385C>T (p.Gln2129Ter)	rs80344795
NM_001164508.2(NEB):c.734del (p.Gly245fs)	rs1559573882
NM_001164508.2(NEB):c.7647C>G (p.Tyr2549Ter)	rs1373493309
NM_001164508.2(NEB):c.7665del (p.Arg2556fs)
NM_001164508.2(NEB):c.9465del (p.Ile3156fs)	rs1553939600
NM_001267550.2(TTN):c.100766-1G>T
NM_001267550.2(TTN):c.19426+2T>A	rs727505178
NM_001267550.2(TTN):c.41483del (p.Pro13828fs)	rs876657664
NM_001267550.2(TTN):c.51931G>T (p.Glu17311Ter)	rs2154198430
NM_001267550.2(TTN):c.52567del (p.Leu17523fs)
NM_001267550.2(TTN):c.54190+1G>A	rs756339648
NM_001267550.2(TTN):c.54514A>T (p.Lys18172Ter)
NM_001953.5(TYMP):c.1040T>C (p.Leu347Pro)
NM_001953.5(TYMP):c.829dup (p.Leu277fs)
NM_004369.4(COL6A3):c.6157-1G>A
NM_004369.4(COL6A3):c.6424C>T (p.Arg2142Ter)
NM_020451.3(SELENON):c.1499dup (p.Asn501fs)
NM_020451.3(SELENON):c.402_403+2del	rs773670891
NM_020451.3(SELENON):c.600_601del (p.Phe201fs)
NM_020451.3(SELENON):c.863_864del (p.Val288fs)	rs1184282261
NM_021830.5(TWNK):c.718C>T (p.Arg240Ter)
NM_025215.6(PUS1):c.70_74dup (p.Ser26fs)
NM_032608.7(MYO18B):c.3110G>A (p.Trp1037Ter)

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