List of variants studied for neurocristopathy by Laboratory of Molecular and Cytogenetics, Department of Anatomy, All India Institute of Medical Sciences (AIIMS)

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Total variants: 25

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HGVS	dbSNP	gnomAD frequency
NM_020975.6(RET):c.1894G>A (p.Glu632Lys)	rs377767407	0.00006
NM_004168.4(SDHA):c.448G>A (p.Val150Met)	rs542980860	0.00004
NM_001365951.3(KIF1B):c.2642A>G (p.Tyr881Cys)	rs755850268	0.00001
NM_020975.6(RET):c.1900T>C (p.Cys634Arg)	rs75076352	0.00001
NM_000051.4(ATM):c.7381C>A (p.Arg2461Ser)
NM_000455.5(STK11):c.749C>T (p.Thr250Met)	rs876661238
NM_001370259.2(MEN1):c.1174del (p.Glu392fs)	rs386134247
NM_001370259.2(MEN1):c.1230del (p.Phe410fs)
NM_001370259.2(MEN1):c.137A>T (p.His46Leu)
NM_001370259.2(MEN1):c.428T>G (p.Leu143Arg)
NM_001370259.2(MEN1):c.446-2A>C	rs886042035
NM_001370259.2(MEN1):c.548G>A (p.Trp183Ter)	rs794728650
NM_001370259.2(MEN1):c.725C>T (p.Ala242Val)	rs2136141530
NM_001370259.2(MEN1):c.758C>T (p.Ser253Leu)	rs386134259
NM_001370259.2(MEN1):c.818T>C (p.Leu273Pro)	rs1592647281
NM_004304.5(ALK):c.3098T>A (p.Leu1033His)	rs572614173
NM_020975.6(RET):c.1141T>C (p.Phe381Leu)	rs781362020
NM_020975.6(RET):c.1832G>T (p.Cys611Phe)	rs377767397
NM_020975.6(RET):c.1852T>A (p.Cys618Ser)	rs76262710
NM_020975.6(RET):c.1852T>C (p.Cys618Arg)	rs76262710
NM_020975.6(RET):c.1858T>C (p.Cys620Arg)	rs77316810
NM_020975.6(RET):c.1901G>A (p.Cys634Tyr)	rs75996173
NM_020975.6(RET):c.2647_2648delinsTT (p.Ala883Phe)	rs377767429
NM_020975.6(RET):c.2753T>C (p.Met918Thr)	rs74799832
NM_024529.5(CDC73):c.70G>T (p.Glu24Ter)

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