ClinVar Miner

List of variants reported for Leukodystrophy, hypomyelinating, 11 by MyeliNeuroGene Lab,McGill University Health Center Research Institute

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Total variants: 29
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HGVS dbSNP
NM_203290.4(POLR1C):c.193A>G (p.Met65Val) rs141471029
NM_203290.4(POLR1C):c.221A>G (p.Asn74Ser) rs371802902
NM_203290.4(POLR1C):c.281T>C (p.Val94Ala)
NM_203290.4(POLR1C):c.313A>T (p.Ile105Phe)
NM_203290.4(POLR1C):c.322C>T (p.His108Tyr)
NM_203290.4(POLR1C):c.325C>T (p.Arg109Cys)
NM_203290.4(POLR1C):c.326G>A (p.Arg109His) rs796052127
NM_203290.4(POLR1C):c.349G>C (p.Ala117Pro)
NM_203290.4(POLR1C):c.395G>A (p.Gly132Asp)
NM_203290.4(POLR1C):c.436T>C (p.Cys146Arg) rs796052125
NM_203290.4(POLR1C):c.461_462del (p.Lys154fs)
NM_203290.4(POLR1C):c.502G>A (p.Val168Met)
NM_203290.4(POLR1C):c.572G>A (p.Arg191Gln) rs373046018
NM_203290.4(POLR1C):c.616del (p.Gln206fs)
NM_203290.4(POLR1C):c.69+1G>A
NM_203290.4(POLR1C):c.699C>G (p.Tyr233Ter) rs763593155
NM_203290.4(POLR1C):c.70-1G>A rs886041661
NM_203290.4(POLR1C):c.733G>A (p.Val245Met)
NM_203290.4(POLR1C):c.77C>T (p.Thr26Ile) rs796052126
NM_203290.4(POLR1C):c.785T>C (p.Ile262Thr)
NM_203290.4(POLR1C):c.79A>G (p.Thr27Ala) rs144054843
NM_203290.4(POLR1C):c.835C>T (p.Arg279Trp) rs141156009
NM_203290.4(POLR1C):c.836G>A (p.Arg279Gln) rs191582628
NM_203290.4(POLR1C):c.880_882AAG[1] (p.Lys295del) rs875989826
NM_203290.4(POLR1C):c.88C>T (p.Pro30Ser) rs1057519455
NM_203290.4(POLR1C):c.916_920del (p.Tyr306fs)
NM_203290.4(POLR1C):c.938C>T (p.Thr313Met)
NM_203290.4(POLR1C):c.95A>T (p.Asn32Ile) rs796052124
NM_203290.4(POLR1C):c.970G>A (p.Glu324Lys)

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