ClinVar Miner

List of variants studied for skeletal muscle disorder by Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine

Included ClinVar conditions (610):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 33
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HGVS dbSNP gnomAD frequency
NM_181458.4(PAX3):c.944C>A (p.Thr315Lys) rs2234675 0.02573
NM_001927.4(DES):c.638C>T (p.Ala213Val) rs41272699 0.01015
NM_000245.4(MET):c.2975C>T (p.Thr992Ile) rs56391007 0.00911
NM_001849.4(COL6A2):c.*5G>A rs377195134 0.00026
NM_001349723.3(DNAJB5):c.43C>T (p.Pro15Ser) rs774909609 0.00014
NM_201384.3(PLEC):c.8801C>T (p.Thr2934Met) rs368122904 0.00013
NM_182961.4(SYNE1):c.21377A>G (p.Lys7126Arg) rs145882956 0.00011
NM_032608.7(MYO18B):c.2879C>T (p.Ala960Val) rs147134820 0.00010
NM_017739.4(POMGNT1):c.550C>T (p.His184Tyr) rs746638187 0.00005
NM_182961.4(SYNE1):c.2818G>A (p.Glu940Lys) rs757479164 0.00005
NM_032608.7(MYO18B):c.3397C>T (p.Arg1133Trp) rs775800465 0.00004
NM_170707.4(LMNA):c.350A>G (p.Lys117Arg) rs397517901 0.00004
NM_032608.7(MYO18B):c.6322C>T (p.Arg2108Ter) rs773193391 0.00002
NM_001164508.2(NEB):c.19101+5G>A rs374929094 0.00001
NM_000117.3(EMD):c.188-6A>G rs2148128297
NM_000138.5(FBN1):c.4970_4971insA (p.Cys1658fs) rs864309713
NM_001001344.3(ATP2B3):c.3594G>T (p.Lys1198Asn) rs782596945
NM_001159699.2(FHL1):c.29C>G (p.Ser10Cys) rs1603270381
NM_001164508.2(NEB):c.24988C>T (p.Arg8330Ter) rs767709270
NM_001267550.2(TTN):c.2370+2T>C rs1574817395
NM_001267550.2(TTN):c.67279C>T (p.Arg22427Ter) rs1200988060
NM_001379081.2(FREM1):c.1394G>C (p.Gly465Ala) rs41298151
NM_004369.4(COL6A3):c.1840C>T (p.Gln614Ter) rs1574724863
NM_004369.4(COL6A3):c.7720del (p.Leu2574fs) rs1574942920
NM_004369.4(COL6A3):c.985G>A (p.Val329Met) rs542283928
NM_004370.6(COL12A1):c.1488dup (p.Phe497fs) rs1582196903
NM_005032.7(PLS3):c.1054T>C (p.Phe352Leu) rs2147577404
NM_005032.7(PLS3):c.617C>T (p.Ala206Val) rs2147551760
NM_005876.5(SPEG):c.6971T>A (p.Ile2324Asn) rs201170917
NM_005876.5(SPEG):c.9575C>A (p.Thr3192Asn) rs534715710
NM_017739.4(POMGNT1):c.461C>A (p.Pro154His) rs886043030
NM_021942.6(TRAPPC11):c.142C>T (p.Arg48Ter) rs150331292
NM_201384.3(PLEC):c.6511A>G (p.Lys2171Glu) rs1554692271

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