ClinVar Miner

List of variants studied for cerebellar disorder by Kasturba Medical College, Manipal, Kasturba Medical College, Manipal, Manipal Academy of Higher Education, Manipal, India

Included ClinVar conditions (275):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_000784.4(CYP27A1):c.1184G>A (p.Arg395His) rs587778778 0.00011
NM_000784.4(CYP27A1):c.1184+1G>A rs587778777 0.00009
NM_000784.4(CYP27A1):c.490C>T (p.Arg164Trp) rs61733615 0.00005
NM_001020658.2(PUM1):c.3439C>T (p.Arg1147Trp) rs1557539450
NM_001378615.1(CC2D2A):c.4230G>T (p.Trp1410Cys)
NM_018896.5(CACNA1G):c.4594T>C (p.Phe1532Leu) rs2145968180
NM_153816.6(SNX14):c.1108G>A (p.Glu370Lys) rs201128942

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