List of variants studied for cerebral lipidosis with dementia by Centogene AG - the Rare Disease Company

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		ClinVar version:

Total variants: 13

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HGVS	dbSNP	gnomAD frequency
NM_000157.4(GBA1):c.1226A>G (p.Asn409Ser)	rs76763715	0.00191
NM_000520.6(HEXA):c.1274_1277dup (p.Tyr427fs)	rs387906309	0.00046
NM_000157.4(GBA1):c.680A>G (p.Asn227Ser)	rs364897	0.00011
NM_000784.4(CYP27A1):c.1184+1G>A	rs587778777	0.00009
NM_000157.4(GBA1):c.1504C>T (p.Arg502Cys)	rs80356771	0.00006
NM_000521.4(HEXB):c.1082+5G>A	rs5030731	0.00004
NM_000157.4(GBA1):c.437C>T (p.Ser146Leu)	rs758447515	0.00003
NM_000521.4(HEXB):c.1597C>T (p.Arg533Cys)	rs764552042	0.00003
NM_000520.6(HEXA):c.109T>A (p.Tyr37Asn)	rs759157781	0.00001
NM_000521.4(HEXB):c.850C>T (p.Arg284Ter)	rs121907986	0.00001
NM_000157.4(GBA1):c.1448T>C (p.Leu483Pro)	rs421016
NM_000520.6(HEXA):c.902T>G (p.Met301Arg)	rs121907977
NM_017882.3(CLN6):c.316dup (p.Arg106fs)	rs397515352

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