List of variants studied for hereditary dementia by Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology

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Total variants: 20

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HGVS	dbSNP	gnomAD frequency
NM_000157.4(GBA1):c.1316G>A (p.Ser439Asn)	rs1571966221	0.00001
NM_001278064.2(GRM1):c.3405C>G (p.Ser1135Arg)	rs1188689970	0.00001
NM_000033.4(ABCD1):c.323C>T (p.Ser108Leu)	rs2091705631
NM_000487.6(ARSA):c.607T>A (p.Tyr203Asn)
NM_000784.4(CYP27A1):c.379C>G (p.Arg127Gly)
NM_001029896.2(WDR45):c.891_892insT (p.Ala298fs)	rs2147814859
NM_001127222.2(CACNA1A):c.7087C>T (p.Arg2363Cys)
NM_001378452.1(ITPR1):c.1813C>G (p.Leu605Val)
NM_003900.5(SQSTM1):c.1159C>G (p.Pro387Ala)
NM_006946.4(SPTBN2):c.6230C>T (p.Ala2077Val)
NM_017882.3(CLN6):c.195dup (p.Met66fs)
NM_017882.3(CLN6):c.297G>T (p.Lys99Asn)
NM_018896.5(CACNA1G):c.2614C>A (p.Leu872Ile)
NM_018896.5(CACNA1G):c.2885T>C (p.Ile962Thr)	rs2145513175
NM_018896.5(CACNA1G):c.3182C>G (p.Ala1061Gly)	rs781015006
NM_022089.4(ATP13A2):c.1407_1428dup (p.Met477fs)
NM_022089.4(ATP13A2):c.514C>T (p.Arg172Cys)
NM_033305.3(VPS13A):c.4918C>T (p.Gln1640Ter)	rs1829478568
NM_052918.5(SORCS1):c.3371+167C>T	rs1844748933
NM_152296.5(ATP1A3):c.2749G>C (p.Val917Leu)

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