ClinVar Miner

List of variants studied for hereditary skeletal muscle disorder by Provincial Medical Genetics Program of British Columbia, University of British Columbia

Included ClinVar conditions (571):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_152393.4(KLHL40):c.1516A>C (p.Thr506Pro) rs778022582 0.00002
NM_001267550.2(TTN):c.72669del (p.Asp24224fs) rs727504531 0.00001
NM_001848.3(COL6A1):c.178G>T (p.Asp60Tyr) rs2123460260
NM_018684.4(ZC4H2):c.592C>G (p.Arg198Gly) rs137962226
NM_152393.4(KLHL40):c.1350C>A (p.Tyr450Ter) rs1486566170
Single allele

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