ClinVar Miner

List of variants studied for congenital myopathy by Victorian Clinical Genetics Services, Murdoch Childrens Research Institute

Included ClinVar conditions (280):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 51
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HGVS dbSNP gnomAD frequency
NM_001164508.2(NEB):c.23989C>T (p.Arg7997Ter) rs549794342 0.00061
NM_032578.4(MYPN):c.3833G>A (p.Arg1278Gln) rs142877365 0.00052
NM_001164508.2(NEB):c.3255C>T (p.Asp1085=) rs368625295 0.00048
NM_004369.4(COL6A3):c.8966-3C>A rs190667494 0.00026
NM_152393.4(KLHL40):c.1746C>A (p.Asp582Glu) rs202096553 0.00016
NM_005876.5(SPEG):c.4759G>A (p.Gly1587Arg) rs200114716 0.00013
NM_001164508.2(NEB):c.22590+2T>C rs200449517 0.00009
NM_001042631.3(SDHAF1):c.156C>A (p.Tyr52Ter) rs768768823 0.00007
NM_005262.3(GFER):c.586C>T (p.Arg196Cys) rs370475970 0.00007
NM_000402.4(G6PD):c.1039G>A (p.Glu347Lys) rs137852339 0.00004
NM_000116.5(TAFAZZIN):c.763G>A (p.Glu255Lys) rs782498694 0.00003
NM_001164508.2(NEB):c.11910+1G>A rs774495973 0.00003
NM_005262.3(GFER):c.580C>T (p.Arg194Cys) rs780851934 0.00003
NM_001042631.3(SDHAF1):c.28C>T (p.Gln10Ter) rs1397859218 0.00001
NM_001164507.2(NEB):c.21392A>T (p.Lys7131Met) rs530565802 0.00001
NM_198271.5(LMOD3):c.166G>A (p.Asp56Asn) rs1469953832 0.00001
NC_012920.1:m.3243A>G rs199474657
NM_000116.5(TAFAZZIN):c.149T>A (p.Leu50Gln)
NM_000116.5(TAFAZZIN):c.347G>A (p.Gly116Asp) rs727504327
NM_000116.5(TAFAZZIN):c.580dup (p.Trp194fs) rs2148211636
NM_000252.2(MTM1):c.-76_-11del
NM_000252.3(MTM1):c.1205G>T (p.Gly402Val)
NM_000252.3(MTM1):c.1244G>A (p.Gly415Glu) rs587783766
NM_000252.3(MTM1):c.153C>A (p.Tyr51Ter) rs2148434034
NM_000252.3(MTM1):c.226G>T (p.Glu76Ter) rs1057516031
NM_000540.3(RYR1):c.5989G>A (p.Glu1997Lys) rs1366464512
NM_001101362.3(KBTBD13):c.848dup (p.Cys284fs) rs2140545005
NM_001164508.2(NEB):c.11210C>T (p.Ser3737Phe)
NM_001164508.2(NEB):c.20456G>A (p.Arg6819Gln)
NM_001164508.2(NEB):c.23034T>A (p.Asp7678Glu)
NM_001164508.2(NEB):c.23742+1G>A
NM_001164508.2(NEB):c.24177_24178del (p.Arg8059fs) rs1266535163
NM_001164508.2(NEB):c.9465del (p.Ile3156fs) rs1553939600
NM_001256007.3(PNPLA8):c.1844T>A (p.Phe615Tyr)
NM_001256007.3(PNPLA8):c.2161G>A (p.Glu721Lys) rs1859698620
NM_001256007.3(PNPLA8):c.929T>C (p.Val310Ala)
NM_001368067.1(LDB3):c.439G>A (p.Ala147Thr) rs121908333
NM_001458.5(FLNC):c.7909A>C (p.Lys2637Gln) rs767794768
NM_001953.5(TYMP):c.1109A>T (p.Gln370Leu) rs1276418601
NM_001953.5(TYMP):c.1444C>T (p.Gln482Ter)
NM_001953.5(TYMP):c.695T>C (p.Val232Ala) rs1294823677
NM_001953.5(TYMP):c.893G>A (p.Gly298Asp) rs1064792872
NM_002495.4(NDUFS4):c.350+1G>T
NM_004369.4(COL6A3):c.4532G>C (p.Gly1511Ala)
NM_004370.6(COL12A1):c.1109C>T (p.Pro370Leu)
NM_004370.6(COL12A1):c.8938C>T (p.Arg2980Ter)
NM_005262.3(GFER):c.258+1G>A
NM_017534.6(MYH2):c.2107G>A (p.Gly703Ser) rs2142307936
NM_078470.6(COX15):c.211C>T (p.Arg71Ter)
NM_078470.6(COX15):c.287G>T (p.Gly96Val) rs771992107
NM_078470.6(COX15):c.839T>C (p.Phe280Ser)

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