ClinVar Miner

List of variants studied for focal dystonia

Included ClinVar conditions (8):
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ClinVar version:
Total variants: 29
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HGVS dbSNP gnomAD frequency
NM_004606.5(TAF1):c.4708C>T (p.Leu1570=) rs142496099 0.00176
NM_004606.5(TAF1):c.422C>T (p.Pro141Leu) rs141145230 0.00045
NM_000718.4(CACNA1B):c.4166G>A (p.Arg1389His) rs184841813 0.00043
NM_004606.5(TAF1):c.4698G>A (p.Arg1566=) rs148007434 0.00033
NM_004606.5(TAF1):c.4754-4A>G rs370696191 0.00029
NM_000718.4(CACNA1B):c.6840C>T (p.Phe2280=) rs201383337 0.00025
NM_004606.5(TAF1):c.235+3G>A rs368024152 0.00014
NM_004606.5(TAF1):c.4155G>A (p.Thr1385=) rs202158967 0.00009
NR_104387.1(TAF1):n.5894C>T rs397509359 0.00009
NM_004606.5(TAF1):c.4521G>A (p.Ala1507=) rs758753633 0.00005
NM_000718.4(CACNA1B):c.2636C>A (p.Pro879His) rs1036442743 0.00001
DRD5, (CT/GT/GA)n
NC_012920.1(MT-CO3):m.9355A>T rs1556423663
NG_012771.2:g.79230_79231ins[AB191243.1:g.261508_264134]
NM_000718.4(CACNA1B):c.3862G>A (p.Val1288Ile) rs1959395759
NM_000718.4(CACNA1B):c.4953C>A (p.Ser1651Arg) rs200540820
NM_000718.4(CACNA1B):c.5233A>G (p.Ser1745Gly) rs1554758384
NM_001131016.2(CIZ1):c.2023G>C (p.Asp675His)
NM_004606.5(TAF1):c.1474A>T (p.Met492Leu) rs2033909793
NM_004606.5(TAF1):c.1632G>T (p.Gly544=)
NM_004606.5(TAF1):c.2267A>G (p.His756Arg)
NM_004606.5(TAF1):c.2327A>G (p.Glu776Gly)
NM_004606.5(TAF1):c.2551G>A (p.Ala851Thr)
NM_004606.5(TAF1):c.3796G>A (p.Gly1266Arg) rs2148443174
NM_004606.5(TAF1):c.4427A>C (p.Asp1476Ala) rs1060499594
NM_004606.5(TAF1):c.694C>A (p.Pro232Thr)
NM_152296.5(ATP1A3):c.2401G>A (p.Asp801Asn)
NM_152296.5(ATP1A3):c.2443G>A (p.Glu815Lys) rs387907281
NM_152296.5(ATP1A3):c.958G>C (p.Ala320Pro) rs879255368

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