ClinVar Miner

List of variants in gene CACNA1S reported as benign by GeneDx

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Gene type:
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Total variants: 93
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HGVS dbSNP
NC_000001.11:g.201073349_201073351del
NC_000001.11:g.201074175del
NC_000001.11:g.201074718_201074719del
NC_000001.11:g.201110107C>T
NC_000001.11:g.201112156del
NC_000001.11:g.201112570T>C
NC_000001.11:g.201112649C>G
NC_000001.11:g.201112815C>G
NC_000001.11:g.201112815C>T
NM_000069.3(CACNA1S):c.-83C>T rs116071603
NM_000069.3(CACNA1S):c.1004+205A>G
NM_000069.3(CACNA1S):c.1151-38C>A
NM_000069.3(CACNA1S):c.1233-190C>T
NM_000069.3(CACNA1S):c.1233-293C>T
NM_000069.3(CACNA1S):c.1371T>G (p.Pro457=) rs12742170
NM_000069.3(CACNA1S):c.1373T>A (p.Leu458His) rs12742169
NM_000069.3(CACNA1S):c.1393+7C>T rs3767512
NM_000069.3(CACNA1S):c.1393+91A>G
NM_000069.3(CACNA1S):c.1491C>T (p.Asn497=) rs16847674
NM_000069.3(CACNA1S):c.1515T>C (p.Cys505=) rs9427714
NM_000069.3(CACNA1S):c.152+17G>C rs113558244
NM_000069.3(CACNA1S):c.152+299T>C
NM_000069.3(CACNA1S):c.152+56G>A
NM_000069.3(CACNA1S):c.153-166G>A
NM_000069.3(CACNA1S):c.153-193G>T
NM_000069.3(CACNA1S):c.153-321G>A
NM_000069.3(CACNA1S):c.153-61A>T
NM_000069.3(CACNA1S):c.1548G>A (p.Ser516=) rs16847669
NM_000069.3(CACNA1S):c.1564C>T (p.Leu522=) rs4915476
NM_000069.3(CACNA1S):c.1620-124A>C
NM_000069.3(CACNA1S):c.1620-133T>C
NM_000069.3(CACNA1S):c.1817G>A (p.Ser606Asn) rs142356235
NM_000069.3(CACNA1S):c.1828-5T>C rs1998721
NM_000069.3(CACNA1S):c.1948+279G>A
NM_000069.3(CACNA1S):c.1995C>T (p.Ala665=) rs16847664
NM_000069.3(CACNA1S):c.2063+333G>A
NM_000069.3(CACNA1S):c.2063+7G>T rs79984703
NM_000069.3(CACNA1S):c.2064-213C>T
NM_000069.3(CACNA1S):c.206C>G (p.Ala69Gly) rs12406479
NM_000069.3(CACNA1S):c.2157+59C>T
NM_000069.3(CACNA1S):c.2403T>C (p.Phe801=) rs7415038
NM_000069.3(CACNA1S):c.2480T>C (p.Met827Thr) rs61238538
NM_000069.3(CACNA1S):c.252C>T (p.Leu84=) rs112868209
NM_000069.3(CACNA1S):c.2550+303A>G
NM_000069.3(CACNA1S):c.258+199_258+200dup
NM_000069.3(CACNA1S):c.258+204C>T
NM_000069.3(CACNA1S):c.258+271T>C
NM_000069.3(CACNA1S):c.2658-163C>A
NM_000069.3(CACNA1S):c.2658-44T>A
NM_000069.3(CACNA1S):c.2673C>T (p.Ser891=) rs16847623
NM_000069.3(CACNA1S):c.2746-14C>T rs113792034
NM_000069.3(CACNA1S):c.2746-16G>A rs531717137
NM_000069.3(CACNA1S):c.2748C>T (p.His916=) rs2297902
NM_000069.3(CACNA1S):c.2784C>T (p.Ile928=) rs143483718
NM_000069.3(CACNA1S):c.3053+13T>C rs41267501
NM_000069.3(CACNA1S):c.3054-72C>T
NM_000069.3(CACNA1S):c.3261A>G (p.Gln1087=) rs34515088
NM_000069.3(CACNA1S):c.3525+18C>T rs56021911
NM_000069.3(CACNA1S):c.3526-232C>T
NM_000069.3(CACNA1S):c.3610-291C>G
NM_000069.3(CACNA1S):c.3667-319G>C
NM_000069.3(CACNA1S):c.3795+3G>A rs191758096
NM_000069.3(CACNA1S):c.3796-9G>A rs142184434
NM_000069.3(CACNA1S):c.3811G>A (p.Ala1271Thr) rs138144724
NM_000069.3(CACNA1S):c.3822C>T (p.Ile1274=) rs56183942
NM_000069.3(CACNA1S):c.3953+66G>C
NM_000069.3(CACNA1S):c.3953+6C>T rs115707724
NM_000069.3(CACNA1S):c.3954-303A>C
NM_000069.3(CACNA1S):c.3954-89C>T
NM_000069.3(CACNA1S):c.398+149A>G
NM_000069.3(CACNA1S):c.399-14C>T rs116534514
NM_000069.3(CACNA1S):c.4053A>G (p.Thr1351=) rs13376324
NM_000069.3(CACNA1S):c.4241+183G>A
NM_000069.3(CACNA1S):c.4441+22dup
NM_000069.3(CACNA1S):c.4543+7G>A rs2297905
NM_000069.3(CACNA1S):c.4615C>T (p.Arg1539Cys) rs3850625
NM_000069.3(CACNA1S):c.4669-150C>T
NM_000069.3(CACNA1S):c.4797+120A>G
NM_000069.3(CACNA1S):c.4798-278G>A
NM_000069.3(CACNA1S):c.4860C>T (p.Pro1620=) rs41267497
NM_000069.3(CACNA1S):c.4973G>A (p.Arg1658His) rs13374149
NM_000069.3(CACNA1S):c.5048+162G>A
NM_000069.3(CACNA1S):c.5049-145A>G
NM_000069.3(CACNA1S):c.5135-56A>G
NM_000069.3(CACNA1S):c.5227-54T>C
NM_000069.3(CACNA1S):c.5399T>C (p.Leu1800Ser) rs12139527
NM_000069.3(CACNA1S):c.5490_5497del (p.Leu1832fs) rs554596425
NM_000069.3(CACNA1S):c.597C>T (p.Ile199=) rs2296383
NM_000069.3(CACNA1S):c.694+243G>A
NM_000069.3(CACNA1S):c.695-101A>G
NM_000069.3(CACNA1S):c.773G>A (p.Gly258Asp) rs35534614
NM_000069.3(CACNA1S):c.858C>T (p.Tyr286=) rs61734621
NM_000069.3(CACNA1S):c.895T>C (p.Tyr299His) rs35856559

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