ClinVar Miner

List of variants studied for hereditary skeletal muscle disorder by Suma Genomics

Included ClinVar conditions (587):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_025207.5(FLAD1):c.1588C>T (p.Arg530Cys) rs771466122 0.00005
NM_000540.3(RYR1):c.14126C>T (p.Thr4709Met) rs118192140 0.00004
NM_001267550.2(TTN):c.9448C>T (p.Arg3150Ter) rs146572907 0.00001
NM_000070.3(CAPN3):c.1247del (p.Leu416fs)
NM_000252.3(MTM1):c.326T>C (p.Leu109Pro) rs2148456078
NM_000426.4(LAMA2):c.7778del (p.Gly2593fs) rs2114848887
NM_000426.4(LAMA2):c.8380_8383del (p.Arg2794fs) rs2114890786
NM_000540.3(RYR1):c.2682G>C (p.Pro894=) rs919322708
NM_001100.4(ACTA1):c.589G>A (p.Glu197Lys)
NM_001130987.2(DYSF):c.4576G>T (p.Glu1526Ter) rs886042635
NM_001267550.2(TTN):c.10115-1G>A rs2088245783
NM_001267550.2(TTN):c.107623_107626dup (p.Asn35876delinsIleTer) rs1575175498
NM_001267550.2(TTN):c.25006T>C (p.Cys8336Arg) rs2154299294
NM_001267550.2(TTN):c.46455del (p.Pro15486fs) rs2154210615
NM_001267550.2(TTN):c.92877G>A (p.Trp30959Ter) rs2154147664
NM_001289808.2(CRYAB):c.327T>G (p.Asp109Glu)
NM_001849.4(COL6A2):c.101_104del (p.Asn34fs) rs2123612919
NM_004006.3(DMD):c.9563+1G>A rs886043989
NM_005876.5(SPEG):c.9389C>T (p.Pro3130Leu) rs1376293618
NM_021830.5(TWNK):c.1075G>A (p.Ala359Thr) rs111033573
NM_024301.5(FKRP):c.503G>A (p.Cys168Tyr) rs554813030
NM_025207.5(FLAD1):c.512_528del (p.Thr171fs)
NM_152263.4(TPM3):c.502C>T (p.Arg168Cys) rs121964854
NM_170707.4(LMNA):c.168C>G (p.Asn56Lys) rs2102817952

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