ClinVar Miner

List of variants studied for hypertrophic cardiomyopathy 18 by Fulgent Genetics, Fulgent Genetics

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 15
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HGVS dbSNP gnomAD frequency
NM_002667.5(PLN):c.*1279G>A rs537800022 0.00231
NM_002667.5(PLN):c.*1243C>T rs146145000 0.00195
NM_002667.5(PLN):c.-120C>T rs150080760 0.00167
NM_002667.5(PLN):c.*415T>C rs117280667 0.00032
NC_000006.12:g.118548254C>G rs188578681 0.00029
NM_002667.5(PLN):c.*1007T>A rs528466147 0.00011
NM_002667.5(PLN):c.*277A>G rs768837853 0.00004
NM_002667.5(PLN):c.*891C>T rs886061004 0.00004
NM_002667.5(PLN):c.145G>A (p.Val49Met) rs749962743 0.00004
NM_002667.5(PLN):c.*1135C>T rs886061005 0.00003
NM_002667.5(PLN):c.*1225C>T rs886061007 0.00003
NM_002667.5(PLN):c.53T>C (p.Ile18Thr) rs1029766634 0.00003
NC_000006.12:g.118548182T>C rs1230141633 0.00001
NM_002667.5(PLN):c.-142T>A rs779232815 0.00001
NM_002667.5(PLN):c.61C>A (p.Pro21Thr) rs397516786 0.00001

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