List of variants in gene ALPK3 reported as likely pathogenic for cardiomyopathy

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 21

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HGVS	dbSNP	gnomAD frequency
NM_020778.5(ALPK3):c.297del (p.Ile99fs)	rs770674513	0.00002
NM_020778.5(ALPK3):c.4768C>T (p.Arg1590Ter)	rs541612157	0.00001
NM_020778.4(ALPK3):c.5019del	rs2141573290
NM_020778.5(ALPK3):c.1103_1113del (p.Thr368fs)
NM_020778.5(ALPK3):c.1417del (p.Gln473fs)	rs769139957
NM_020778.5(ALPK3):c.182+1G>T
NM_020778.5(ALPK3):c.2043_2044delinsCT (p.Gln681_Glu682delinsHisTer)	rs2141567430
NM_020778.5(ALPK3):c.2645_2670del (p.Gly882fs)	rs1963877824
NM_020778.5(ALPK3):c.3409_3436del (p.Pro1137fs)
NM_020778.5(ALPK3):c.3609dup (p.Ser1204fs)
NM_020778.5(ALPK3):c.3635_3636del (p.Arg1212fs)	rs2141569401
NM_020778.5(ALPK3):c.3691G>T (p.Glu1231Ter)
NM_020778.5(ALPK3):c.3726del (p.Lys1243fs)	rs745688425
NM_020778.5(ALPK3):c.3772C>T (p.Gln1258Ter)
NM_020778.5(ALPK3):c.412C>T (p.Gln138Ter)	rs200889953
NM_020778.5(ALPK3):c.4199del (p.Asp1400fs)	rs1567095321
NM_020778.5(ALPK3):c.432_435dup (p.Asp146fs)
NM_020778.5(ALPK3):c.4391del (p.Asn1464fs)	rs1450218521
NM_020778.5(ALPK3):c.4689G>A (p.Trp1563Ter)
NM_020778.5(ALPK3):c.691C>T (p.Gln231Ter)
NM_020778.5(ALPK3):c.926_927del (p.Lys309fs)

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