ClinVar Miner

List of variants in gene NEUROD2 reported by GeneDx

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Total variants: 31
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HGVS dbSNP gnomAD frequency
NM_006160.4(NEUROD2):c.60C>A (p.Ser20Arg) rs1264763995 0.00001
NM_006160.4(NEUROD2):c.63G>C (p.Trp21Cys) rs1310425209 0.00001
NM_006160.4(NEUROD2):c.-1C>T
NM_006160.4(NEUROD2):c.1008_1012del (p.Pro337fs)
NM_006160.4(NEUROD2):c.1013C>G (p.Thr338Arg)
NM_006160.4(NEUROD2):c.1052G>T (p.Gly351Val)
NM_006160.4(NEUROD2):c.1090C>T (p.His364Tyr)
NM_006160.4(NEUROD2):c.10C>G (p.Arg4Gly)
NM_006160.4(NEUROD2):c.1119C>A (p.Tyr373Ter) rs2545857700
NM_006160.4(NEUROD2):c.1120G>A (p.Glu374Lys)
NM_006160.4(NEUROD2):c.143C>T (p.Ala48Val) rs2545858578
NM_006160.4(NEUROD2):c.178C>T (p.Leu60Phe) rs1387622278
NM_006160.4(NEUROD2):c.22G>T (p.Glu8Ter)
NM_006160.4(NEUROD2):c.242dup (p.Glu82fs)
NM_006160.4(NEUROD2):c.266A>G (p.Glu89Gly)
NM_006160.4(NEUROD2):c.313_327del (p.Gly105_Arg109del)
NM_006160.4(NEUROD2):c.334A>G (p.Thr112Ala)
NM_006160.4(NEUROD2):c.386G>A (p.Arg129Gln)
NM_006160.4(NEUROD2):c.388G>A (p.Glu130Lys) rs1323339153
NM_006160.4(NEUROD2):c.406G>T (p.Asp136Tyr) rs2144812210
NM_006160.4(NEUROD2):c.42C>G (p.Asp14Glu)
NM_006160.4(NEUROD2):c.475A>G (p.Lys159Glu)
NM_006160.4(NEUROD2):c.484_485delinsGA (p.Thr162Glu)
NM_006160.4(NEUROD2):c.652G>T (p.Glu218Ter) rs1281922847
NM_006160.4(NEUROD2):c.655C>T (p.Gln219Ter)
NM_006160.4(NEUROD2):c.759_773del (p.Ala254_Gly258del)
NM_006160.4(NEUROD2):c.830T>A (p.Leu277Gln) rs2545857988
NM_006160.4(NEUROD2):c.870C>G (p.Tyr290Ter) rs2545857947
NM_006160.4(NEUROD2):c.970C>G (p.His324Asp)
NM_006160.4(NEUROD2):c.977_978del (p.Ser326fs) rs2144811663
NM_006160.4(NEUROD2):c.998C>T (p.Pro333Leu)

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