ClinVar Miner

List of variants reported as likely pathogenic for autosomal recessive limb-girdle muscular dystrophy type 2H by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 22
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HGVS dbSNP gnomAD frequency
NM_012210.4(TRIM32):c.467T>C (p.Leu156Pro) rs145907585 0.00005
NM_012210.4(TRIM32):c.1771G>A (p.Val591Met) rs753866301 0.00003
NM_012210.4(TRIM32):c.1181G>A (p.Arg394His) rs121434447 0.00002
NM_012210.4(TRIM32):c.1837C>T (p.Arg613Ter) rs199664043 0.00001
NM_012210.4(TRIM32):c.691del (p.Ala231fs) rs747685252 0.00001
NM_012210.4(TRIM32):c.1012del (p.Ala338fs)
NM_012210.4(TRIM32):c.1108del (p.Met370fs) rs759376012
NM_012210.4(TRIM32):c.1131_1132del (p.Tyr378fs) rs1564217246
NM_012210.4(TRIM32):c.1297_1298del (p.Val434fs)
NM_012210.4(TRIM32):c.1448_1449dup (p.Val484fs)
NM_012210.4(TRIM32):c.1481G>A (p.Trp494Ter)
NM_012210.4(TRIM32):c.1560del (p.Cys521fs) rs1588218453
NM_012210.4(TRIM32):c.1584C>G (p.Tyr528Ter)
NM_012210.4(TRIM32):c.1824del (p.Gly607_Tyr608insTer)
NM_012210.4(TRIM32):c.232_235del (p.Asp78fs)
NM_012210.4(TRIM32):c.430G>T (p.Glu144Ter)
NM_012210.4(TRIM32):c.458_465del (p.Leu153fs) rs749696299
NM_012210.4(TRIM32):c.495del (p.Arg166fs)
NM_012210.4(TRIM32):c.577_581del (p.Arg193fs)
NM_012210.4(TRIM32):c.606_607del (p.Arg203fs) rs2132072315
NM_012210.4(TRIM32):c.697_721dup (p.Tyr241delinsCysAlaGlyCysValSerLeuTer)
NM_012210.4(TRIM32):c.775_794del (p.Asp259fs)

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