ClinVar Miner

List of variants studied for hereditary skeletal muscle disorder by Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen

Included ClinVar conditions (587):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 50
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HGVS dbSNP gnomAD frequency
NM_198859.4(PRICKLE2):c.816T>C (p.Asp272=) rs27673 0.98545
NM_000426.4(LAMA2):c.381C>A (p.Thr127=) rs4404787 0.95273
NM_182914.3(SYNE2):c.8404A>G (p.Ser2802Gly) rs1890908 0.91221
NM_003863.4(DPM2):c.213T>C (p.Tyr71=) rs6781 0.80380
NM_003863.4(DPM2):c.227C>G (p.Thr76Ser) rs7997 0.79357
NM_020451.3(SELENON):c.425G>A (p.Cys142Tyr) rs7349185 0.78899
NM_004320.6(ATP2A1):c.*64G>A rs10499 0.74014
NM_020451.3(SELENON):c.1173T>C (p.Pro391=) rs760597 0.73933
NM_001164508.2(NEB):c.771T>C (p.Ala257=) rs4611637 0.68008
NM_020451.3(SELENON):c.1506C>A (p.Asn502Lys) rs2294228 0.64022
NM_000426.4(LAMA2):c.7830G>C (p.Val2610=) rs2229849 0.63028
NM_000252.3(MTM1):c.1260+3G>A rs222410 0.58566
NM_182914.3(SYNE2):c.15556C>A (p.Leu5186Met) rs10151658 0.56664
NM_004409.5(DMPK):c.581+6T>C rs1799894 0.53545
NM_000426.4(LAMA2):c.5466A>G (p.Glu1822=) rs3749877 0.50817
NM_182914.3(SYNE2):c.19333+5C>T rs1152590 0.50736
NM_000426.4(LAMA2):c.5502G>A (p.Glu1834=) rs3749878 0.50693
NM_001101426.4(CRPPA):c.534+13T>A rs6461252 0.47530
NM_182914.3(SYNE2):c.17938T>C (p.Leu5980=) rs2256191 0.47326
NM_000231.3(SGCG):c.312T>G (p.Leu104=) rs1800351 0.47318
NM_017534.6(MYH2):c.324A>G (p.Glu108=) rs12600539 0.42634
NM_004320.6(ATP2A1):c.678T>C (p.Thr226=) rs6565259 0.40633
NM_017534.6(MYH2):c.904+10G>A rs719277 0.39768
NM_000426.4(LAMA2):c.7845G>A (p.Pro2615=) rs2229850 0.35164
NM_017534.6(MYH2):c.3263+15A>G rs2277651 0.34231
NM_182914.3(SYNE2):c.4578-4T>A rs7146588 0.30679
NM_004393.6(DAG1):c.2256C>T (p.His752=) rs1801143 0.30176
NM_001101426.4(CRPPA):c.55A>C (p.Ser19Arg) rs7782939 0.29616
NM_000426.4(LAMA2):c.2799A>G (p.Gln933=) rs1027199 0.26612
NM_000426.4(LAMA2):c.1856G>A (p.Arg619His) rs3816665 0.25723
NM_000426.4(LAMA2):c.3411+13G>A rs3798663 0.25503
NM_003283.6(TNNT1):c.129-9T>G rs67795913 0.10318
NM_000426.4(LAMA2):c.3412G>A (p.Val1138Met) rs2306942 0.09135
NM_182914.3(SYNE2):c.1721T>C (p.Ile574Thr) rs9944035 0.08879
NM_182914.3(SYNE2):c.12001T>C (p.Trp4001Arg) rs2792205 0.08782
NM_182914.3(SYNE2):c.12002G>A (p.Trp4001Ter) rs2781377 0.08740
NM_000426.4(LAMA2):c.7906A>G (p.Thr2636Ala) rs2244008 0.08650
NM_000426.4(LAMA2):c.4523+19C>T rs17057158 0.08168
NM_000116.5(TAFAZZIN):c.873G>A (p.Gly291=) rs35902788 0.00370
NM_005006.7(NDUFS1):c.1291C>G (p.Leu431Val) rs78042826 0.00353
NM_000426.4(LAMA2):c.8755C>T (p.Pro2919Ser) rs143026295 0.00224
NM_182914.3(SYNE2):c.19248C>G (p.Pro6416=) rs150363140 0.00116
NM_182914.3(SYNE2):c.12572G>A (p.Gly4191Asp) rs145227848 0.00094
NM_000117.3(EMD):c.495G>A (p.Thr165=) rs151074632 0.00075
NM_000116.5(TAFAZZIN):c.542-20C>T rs373841640 0.00041
NM_000117.3(EMD):c.400-9C>T rs782061626 0.00007
NM_000117.3(EMD):c.454C>T (p.Arg152Cys) rs376456050 0.00006
NM_000116.5(TAFAZZIN):c.594C>T (p.Arg198=) rs797040235
NM_000116.5(TAFAZZIN):c.747C>T (p.Leu249=) rs376379156
NM_017534.6(MYH2):c.399T>A (p.Pro133=) rs11078850

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