ClinVar Miner

List of variants in gene ALPK3, LOC111718493 studied for Cardiomyopathy, familial hypertrophic 27

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Gene type: Distinguish antisense genes from sense genes
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Total variants: 4

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HGVS	dbSNP	gnomAD frequency
NM_020778.5(ALPK3):c.1522T>G (p.Cys508Gly)	rs114207635	0.00431
NM_020778.5(ALPK3):c.1492C>T (p.Pro498Ser)
NM_020778.5(ALPK3):c.1501del (p.Ser501fs)	rs2141557313
NM_020778.5(ALPK3):c.1582C>T (p.Pro528Ser)

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