List of variants in gene CACNA1H reported as uncertain significance by CeGaT Center for Human Genetics Tuebingen

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 25

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HGVS	dbSNP	gnomAD frequency
NM_021098.3(CACNA1H):c.180G>C (p.Ala60=)	rs749735503	0.00049
NM_021098.3(CACNA1H):c.1844C>T (p.Thr615Met)	rs368976749	0.00032
NM_021098.3(CACNA1H):c.6741G>A (p.Lys2247=)	rs373830807	0.00021
NM_021098.3(CACNA1H):c.5346C>T (p.Cys1782=)	rs375518094	0.00008
NM_021098.3(CACNA1H):c.5512G>A (p.Val1838Ile)	rs575909585	0.00007
NM_021098.3(CACNA1H):c.1939G>A (p.Gly647Ser)	rs147702970	0.00006
NM_021098.3(CACNA1H):c.2215C>T (p.Arg739Cys)	rs371167728	0.00006
NM_021098.3(CACNA1H):c.5925C>G (p.Ser1975=)	rs765457704	0.00006
NM_021098.3(CACNA1H):c.3845G>A (p.Arg1282Gln)	rs764530568	0.00004
NM_021098.3(CACNA1H):c.1993G>A (p.Gly665Arg)	rs761785619	0.00003
NM_021098.3(CACNA1H):c.2399T>C (p.Met800Thr)	rs747121461	0.00003
NM_021098.3(CACNA1H):c.3737C>T (p.Ser1246Leu)	rs571145188	0.00003
NM_021098.3(CACNA1H):c.4065C>T (p.Gly1355=)	rs771718484	0.00003
NM_021098.3(CACNA1H):c.6713C>T (p.Ser2238Leu)	rs774045741	0.00003
NM_021098.3(CACNA1H):c.2177G>T (p.Gly726Val)	rs1433384279	0.00002
NM_021098.3(CACNA1H):c.1607C>T (p.Pro536Leu)	rs1481524583	0.00001
NM_021098.3(CACNA1H):c.1226T>A (p.Phe409Tyr)	rs1596407952
NM_021098.3(CACNA1H):c.2254CCAGGC[2] (p.752PG[2])	rs756747669
NM_021098.3(CACNA1H):c.2465C>G (p.Thr822Ser)	rs369356684
NM_021098.3(CACNA1H):c.31G>C (p.Val11Leu)
NM_021098.3(CACNA1H):c.3352C>A (p.Gln1118Lys)	rs1215469090
NM_021098.3(CACNA1H):c.4632C>A (p.Phe1544Leu)	rs775010247
NM_021098.3(CACNA1H):c.4929+8C>A	rs59027578
NM_021098.3(CACNA1H):c.6726G>A (p.Gly2242=)	rs58682447
NM_021098.3(CACNA1H):c.6995C>T (p.Pro2332Leu)	rs759417643

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