List of variants in gene CACNA1H reported by Genome Diagnostics Laboratory, University Medical Center Utrecht

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 26

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HGVS	dbSNP	gnomAD frequency
NM_021098.3(CACNA1H):c.6417T>C (p.Asp2139=)	rs4247094	0.85388
NM_021098.3(CACNA1H):c.3957T>C (p.Asp1319=)	rs8063574	0.85136
NM_021098.3(CACNA1H):c.6230G>A (p.Arg2077His)	rs1054645	0.64981
NM_021098.3(CACNA1H):c.5947T>C (p.Leu1983=)	rs2738893	0.63925
NM_021098.3(CACNA1H):c.1809A>G (p.Arg603=)	rs9934839	0.50649
NM_021098.3(CACNA1H):c.1919C>T (p.Pro640Leu)	rs61734410	0.29755
NM_021098.3(CACNA1H):c.3846-6A>C	rs780882373	0.14047
NM_021098.3(CACNA1H):c.1353C>T (p.Ser451=)	rs9922076	0.09939
NM_021098.3(CACNA1H):c.1668C>T (p.Pro556=)	rs2407083	0.09922
NM_021098.3(CACNA1H):c.1664C>T (p.Ala555Val)	rs9924241	0.01528
NM_021098.3(CACNA1H):c.5897C>T (p.Ala1966Val)	rs72552054	0.01514
NM_021098.3(CACNA1H):c.1120-8C>T	rs59091981	0.00928
NM_021098.3(CACNA1H):c.3175G>T (p.Ala1059Ser)	rs41292285	0.00715
NM_021098.3(CACNA1H):c.5113G>A (p.Ala1705Thr)	rs148651456	0.00596
NM_021098.3(CACNA1H):c.5324-4G>A	rs57687113	0.00558
NM_021098.3(CACNA1H):c.5493C>T (p.Tyr1831=)	rs60218977	0.00542
NM_021098.3(CACNA1H):c.4224-6C>T	rs72552039	0.00386
NM_021098.3(CACNA1H):c.3331G>A (p.Gly1111Arg)	rs59529743	0.00364
NM_021098.3(CACNA1H):c.489G>C (p.Gln163His)	rs60593994	0.00318
NM_021098.3(CACNA1H):c.2354A>T (p.Lys785Met)	rs28365117	0.00299
NM_021098.3(CACNA1H):c.5445+4C>T	rs147142971	0.00295
NM_021098.3(CACNA1H):c.6418G>A (p.Ala2140Thr)	rs59487037	0.00237
NM_021098.3(CACNA1H):c.6195C>T (p.Ala2065=)	rs375589233	0.00171
NM_021098.3(CACNA1H):c.1824G>A (p.Leu608=)	rs57260464	0.00083
NM_021098.3(CACNA1H):c.3925G>A (p.Val1309Ile)	rs201352768	0.00034
NM_021098.3(CACNA1H):c.988G>A (p.Val330Met)	rs752653043

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