List of variants reported as uncertain significance for cerebroretinal microangiopathy with calcifications and cysts 2

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Total variants: 6

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HGVS	dbSNP	gnomAD frequency
NM_024928.5(STN1):c.793A>C (p.Ser265Arg)	rs74157365	0.00150
NM_024928.5(STN1):c.1100C>T (p.Ala367Val)	rs140449924	0.00038
NM_024928.5(STN1):c.19C>T (p.Arg7Trp)	rs746529543	0.00011
NM_024928.5(STN1):c.210T>G (p.Asp70Glu)	rs753319395	0.00001
NM_024928.5(STN1):c.398G>A (p.Arg133Gln)	rs373606965	0.00001
NM_024928.5(STN1):c.143T>C (p.Leu48Ser)

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