ClinVar Miner

List of variants reported as uncertain significance for agenesis of the corpus callosum with peripheral neuropathy by Counsyl

Included ClinVar conditions (1):
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ClinVar version:
Total variants: 9
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HGVS dbSNP gnomAD frequency
NM_001365088.1(SLC12A6):c.316+2dup rs778694021 0.00003
NM_001365088.1(SLC12A6):c.3G>A (p.Met1Ile) rs759559343 0.00001
NM_001365088.1(SLC12A6):c.1494_1499del (p.Ile499_Met500del) rs1555379651
NM_001365088.1(SLC12A6):c.1575_1577dup (p.Thr527dup) rs1342378279
NM_001365088.1(SLC12A6):c.179T>G (p.Met60Arg) rs1555392885
NM_001365088.1(SLC12A6):c.2690_2692del (p.Ser897del) rs1555377235
NM_001365088.1(SLC12A6):c.271+17732A>C rs781478530
NM_001365088.1(SLC12A6):c.3452A>C (p.Ter1151Ser) rs1555376519
NM_001365088.1(SLC12A6):c.543+6G>T rs886051055

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