List of variants reported as pathogenic for hereditary skeletal muscle disorder by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

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Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 111

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HGVS	dbSNP	gnomAD frequency
NM_024301.5(FKRP):c.826C>A (p.Leu276Ile)	rs28937900	0.00103
NM_213599.3(ANO5):c.692G>T (p.Gly231Val)	rs137854523	0.00098
NM_001164508.2(NEB):c.23989C>T (p.Arg7997Ter)	rs549794342	0.00061
NM_017739.4(POMGNT1):c.1539+1G>A	rs138642840	0.00034
NM_000070.3(CAPN3):c.1505T>C (p.Ile502Thr)	rs148044781	0.00026
NM_021971.4(GMPPB):c.860G>A (p.Arg287Gln)	rs202160208	0.00019
NM_001267052.2(UNC45B):c.2255G>A (p.Arg752Gln)	rs139715157	0.00012
NM_017739.4(POMGNT1):c.1895+1G>T	rs386834024	0.00009
NM_001077365.2(POMT1):c.1087C>T (p.Gln363Ter)	rs200056620	0.00008
NM_002693.3(POLG):c.2740A>C (p.Thr914Pro)	rs139590686	0.00008
NM_004006.3(DMD):c.1724T>C (p.Leu575Pro)	rs370644567	0.00008
NM_001042631.3(SDHAF1):c.156C>A (p.Tyr52Ter)	rs768768823	0.00007
NM_000070.3(CAPN3):c.1469G>A (p.Arg490Gln)	rs121434548	0.00006
NM_002693.3(POLG):c.2554C>T (p.Arg852Cys)	rs144500145	0.00006
NM_000070.3(CAPN3):c.2120A>G (p.Asp707Gly)	rs200379491	0.00005
NM_000540.3(RYR1):c.10204T>G (p.Cys3402Gly)	rs367543058	0.00005
NM_001130987.2(DYSF):c.6096dup (p.Glu2033fs)	rs398123799	0.00005
NM_000540.3(RYR1):c.11763C>A (p.Tyr3921Ter)	rs377178986	0.00004
NM_000426.4(LAMA2):c.3976C>T (p.Arg1326Ter)	rs398123373	0.00003
NM_000426.4(LAMA2):c.5476C>T (p.Arg1826Ter)	rs747349942	0.00003
NM_000426.4(LAMA2):c.939_940del (p.Cys314fs)	rs1209130981	0.00003
NM_001079802.2(FKTN):c.919C>T (p.Arg307Ter)	rs267606814	0.00002
NM_152393.4(KLHL40):c.1516A>C (p.Thr506Pro)	rs778022582	0.00002
NM_000540.3(RYR1):c.14545G>A (p.Val4849Ile)	rs118192168	0.00001
NM_000540.3(RYR1):c.7360C>T (p.Arg2454Cys)	rs193922816	0.00001
NM_001042631.3(SDHAF1):c.28C>T (p.Gln10Ter)	rs1397859218	0.00001
NM_001164508.2(NEB):c.19944G>A (p.Ser6648=)	rs201553266	0.00001
NM_001267550.2(TTN):c.95195C>T (p.Pro31732Leu)	rs753334568	0.00001
NM_001927.4(DES):c.322G>T (p.Glu108Ter)	rs62636490	0.00001
NM_003000.3(SDHB):c.725G>A (p.Arg242His)	rs74315368	0.00001
NM_017739.4(POMGNT1):c.643C>T (p.Arg215Ter)	rs386834034	0.00001
NC_000023.11:g.31762447_31872385del
NC_012920.1(MT-TL1):m.3243A>G	rs199474657
NM_000069.3(CACNA1S):c.1084del (p.Asp362fs)
NM_000069.3(CACNA1S):c.4516_4517del (p.Leu1506fs)
NM_000070.2(CAPN3):c.643_663del(p.Ser215_Gly221del)	rs863224965
NM_000070.3(CAPN3):c.1115+2T>C	rs1057524468
NM_000070.3(CAPN3):c.237del (p.Glu79fs)	rs760205277
NM_000070.3(CAPN3):c.550del (p.Thr184fs)	rs80338800
NM_000116.5(TAFAZZIN):c.347G>A (p.Gly116Asp)	rs727504327
NM_000116.5(TAFAZZIN):c.580dup (p.Trp194fs)	rs2148211636
NM_000117.3(EMD):c.428_430del (p.Ser143_Glu144delinsTer)
NM_000117.3(EMD):c.650_654dup (p.Gln219fs)	rs730880352
NM_000252.2(MTM1):c.-76_-11del
NM_000252.3(MTM1):c.1205G>T (p.Gly402Val)
NM_000252.3(MTM1):c.1371del (p.Glu457fs)
NM_000252.3(MTM1):c.153C>A (p.Tyr51Ter)	rs2148434034
NM_000252.3(MTM1):c.226G>T (p.Glu76Ter)	rs1057516031
NM_000334.4(SCN4A):c.3917G>A (p.Gly1306Glu)	rs80338792
NM_000334.4(SCN4A):c.3938C>T (p.Thr1313Met)	rs121908547
NM_000426.4(LAMA2):c.2556del (p.Phe852fs)	rs750731624
NM_000426.4(LAMA2):c.442del (p.Arg148fs)
NM_000540.3(RYR1):c.11929C>T (p.Gln3977Ter)	rs1447117024
NM_000540.3(RYR1):c.12063_12064dup (p.Met4022fs)	rs1419938249
NM_000540.3(RYR1):c.13013_13032del (p.Ala4338fs)	rs193922856
NM_000540.3(RYR1):c.13220del (p.Gly4407fs)	rs1568583728
NM_000540.3(RYR1):c.14581C>T (p.Arg4861Cys)	rs118192181
NM_000540.3(RYR1):c.3899del (p.Phe1300fs)
NM_000540.3(RYR1):c.5989G>A (p.Glu1997Lys)	rs1366464512
NM_000540.3(RYR1):c.7354C>T (p.Arg2452Trp)	rs118192124
NM_000540.3(RYR1):c.7706_7707del (p.Phe2569fs)
NM_001005361.3(DNM2):c.1852G>A (p.Ala618Thr)	rs773598203
NM_001077365.2(POMT1):c.1390dup (p.Trp464fs)
NM_001077365.2(POMT1):c.2101dup (p.Asp701fs)	rs398124245
NM_001079802.2(FKTN):c.1167dup (p.Phe390fs)	rs398123555
NM_001101426.4(CRPPA):c.258-2A>G
NM_001101426.4(CRPPA):c.54_55delinsTGC (p.Ser19fs)	rs2128321525
NM_001159699.2(FHL1):c.613_614del (p.Val205fs)	rs1569530588
NM_001164508.2(NEB):c.24177_24178del (p.Arg8059fs)	rs1266535163
NM_001164508.2(NEB):c.9465del (p.Ile3156fs)	rs1553939600
NM_001173464.2(KIF21A):c.2860C>T (p.Arg954Trp)	rs121912585
NM_001195518.2(MICU1):c.355C>T (p.Arg119Ter)	rs538329212
NM_001267550.2(TTN):c.15496+1G>T	rs397517481
NM_001267550.2(TTN):c.31708_31711del (p.Glu10570fs)
NM_001267550.2(TTN):c.38424del (p.Lys12809fs)	rs1553775991
NM_001267550.2(TTN):c.38809del (p.Glu12937fs)
NM_001267550.2(TTN):c.40091dup (p.Glu13365fs)
NM_001267550.2(TTN):c.50296C>T (p.Arg16766Ter)	rs754866489
NM_001267550.2(TTN):c.78991C>T (p.Arg26331Ter)	rs779996703
NM_001267550.2(TTN):c.83861dup (p.Ile27955fs)
NM_001267550.2(TTN):c.86116C>T (p.Arg28706Ter)	rs794729384
NM_001267550.2(TTN):c.92683C>T (p.Arg30895Ter)	rs869312065
NM_001368067.1(LDB3):c.439G>A (p.Ala147Thr)	rs121908333
NM_001848.3(COL6A1):c.931-1G>A	rs886042354
NM_001849.4(COL6A2):c.1861G>A (p.Asp621Asn)	rs267606750
NM_001927.4(DES):c.1346A>C (p.Lys449Thr)	rs267607485
NM_004006.3(DMD):c.1653G>A (p.Trp551Ter)	rs1060502629
NM_004006.3(DMD):c.1708del (p.Leu570fs)	rs2149137188
NM_004006.3(DMD):c.4980G>A (p.Trp1660Ter)	rs1603631752
NM_004006.3(DMD):c.6290+3076A>G
NM_004006.3(DMD):c.650-39498A>G	rs1556980528
NM_004006.3(DMD):c.8086del (p.Leu2696fs)	rs398124062
NM_004006.3(DMD):c.8627dup (p.Pro2877fs)
NM_004006.3(DMD):c.9563+1G>A	rs886043989
NM_004006.3(DMD):c.9568C>T (p.Arg3190Ter)	rs104894797
NM_005476.7(GNE):c.2086G>A (p.Val696Met)	rs121908627
NM_006086.4(TUBB3):c.784C>T (p.Arg262Cys)	rs267607162
NM_015713.5(RRM2B):c.158G>A (p.Trp53Ter)
NM_015713.5(RRM2B):c.979C>T (p.Arg327Ter)	rs121918310
NM_017534.6(MYH2):c.985C>T (p.Gln329Ter)
NM_018684.4(ZC4H2):c.592C>T (p.Arg198Trp)	rs137962226
NM_021830.5(TWNK):c.1106C>A (p.Ser369Tyr)	rs111033579
NM_021830.5(TWNK):c.1374G>T (p.Gln458His)	rs1554887213
NM_021830.5(TWNK):c.907C>T (p.Arg303Trp)	rs1159929268
NM_024301.5(FKRP):c.1267del (p.Arg423fs)	rs886044083
NM_152328.5(ADSS1):c.741dup (p.Lys248fs)	rs769542442
NM_152393.4(KLHL40):c.931C>A (p.Arg311Ser)	rs763283033
NM_170707.4(LMNA):c.1357C>T (p.Arg453Trp)	rs58932704
NM_173660.5(DOK7):c.1124_1127dup (p.Ala378fs)	rs606231128
NM_213599.3(ANO5):c.191dup (p.Asn64fs)	rs137854521
NM_213599.3(ANO5):c.201_205del (p.Ser67fs)	rs794727745

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