ClinVar Miner

List of variants studied for hereditary skeletal muscle disorder by Solve-RD Consortium

Included ClinVar conditions (591):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 44
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HGVS dbSNP gnomAD frequency
NM_001848.3(COL6A1):c.1741-6G>A rs200334019 0.00016
NM_000540.3(RYR1):c.4405C>T (p.Arg1469Trp) rs200546266 0.00010
NM_000257.4(MYH7):c.4258C>T (p.Arg1420Trp) rs145213771 0.00001
NM_000540.3(RYR1):c.46-10G>A rs1972632890 0.00001
NM_001130987.2(DYSF):c.3167G>A (p.Arg1056Gln) rs150877497 0.00001
GRCh37/hg19 13q12.12(chr13:23853446-23853668)x0
GRCh37/hg19 15q15.1(chr15:42681074-42684971)x1
GRCh37/hg19 17q21.33(chr17:48247452-48247763)x0
GRCh37/hg19 18p11.32(chr18:2795896-2802599)x1
GRCh37/hg19 2q31.2(chr2:179448320-179462531)x1
GRCh37/hg19 6q22.33(chr6:129674257-129674553)x1
GRCh37/hg19 Xp21.1(chrX:31697440-32053731)x0
GRCh37/hg19 Xp21.1(chrX:31893253-32053731)x1
GRCh37/hg19 Xp21.1(chrX:31947661-32053731)x0
GRCh37/hg19 Xp21.1(chrX:32429817-32867988)x1
GRCh37/hg19 Xp21.1(chrX:32456306-32536299)x1
GRCh37/hg19 Xp21.1(chrX:32632368-32867988)x1
NC_012920.1(MT-ND3):m.10197G>A rs267606891
NM_000070.3(CAPN3):c.1333G>A (p.Gly445Arg) rs773827877
NM_000217.3(KCNA1):c.1187G>T (p.Gly396Val) rs2137673958
NM_000334.4(SCN4A):c.486_487insGGCG (p.Thr163fs)
NM_000334.4(SCN4A):c.5156C>G (p.Thr1719Ser)
NM_000540.3(RYR1):c.11359+1del
NM_000540.3(RYR1):c.13913G>T (p.Gly4638Val)
NM_001100.4(ACTA1):c.1000C>T (p.Pro334Ser) rs121909531
NM_001231.5(CASQ1):c.731A>G (p.Asp244Gly) rs730882052
NM_001267550.2(TTN):c.105854dup (p.Pro35286fs)
NM_001267550.2(TTN):c.107840T>A (p.Ile35947Asn) rs281864928
NM_001267550.2(TTN):c.15541GGA[1] (p.Gly5182del)
NM_001267550.2(TTN):c.36948dup (p.Ala12317fs)
NM_001267550.2(TTN):c.40652del (p.Pro13551fs)
NM_001267550.2(TTN):c.41595C>A (p.Cys13865Ter)
NM_001267550.2(TTN):c.6790+1G>T
NM_001267550.2(TTN):c.95134T>C (p.Cys31712Arg) rs869320740
NM_001848.3(COL6A1):c.868G>A (p.Gly290Arg) rs121912939
NM_001848.3(COL6A1):c.958-2A>G rs1556425717
NM_002693.3(POLG):c.1251-2A>G rs2055536585
NM_004006.3(DMD):c.31+36947G>A rs886042106
NM_004370.6(COL12A1):c.3942C>G (p.Asp1314Glu) rs570245614
NM_004370.6(COL12A1):c.8415+1G>A
NM_015295.3(SMCHD1):c.3015dup (p.Asp1006fs)
NM_020451.3(SELENON):c.1090C>T (p.Gln364Ter) rs886041584
NM_152328.5(ADSS1):c.794G>A (p.Gly265Glu)
Single allele

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