ClinVar Miner

List of variants reported as pathogenic by Department of Human Genetics, University Hospital Magdeburg

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Total variants: 21
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HGVS dbSNP gnomAD frequency
GRCh37/hg19 9p23-22.2(chr9:13563537-18491752)x1
GRCh37/hg19 9p23-22.2(chr9:13739630-18023839)x1
GRCh37/hg19 9p23-22.2(chr9:14178768-16619009)x1
GRCh37/hg19 9p23-22.3(chr9:13034407-14653394)x1
GRCh37/hg19 9p23-22.3(chr9:13106806-14639971)x1
GRCh38/hg38 9p23-22.3(chr9:13974416-14286260)x1
GRCh38/hg38 9p23-22.3(chr9:14098660-14324148)x1
GRCh38/hg38 9p23-22.3(chr9:14102176-14386039)x1
NM_001190737.2(NFIB):c.1063_1076del (p.Ile355fs) rs1554639173
NM_001190737.2(NFIB):c.109C>T (p.Arg37Ter) rs1554709792
NM_001190737.2(NFIB):c.265C>T (p.Arg89Ter) rs764333096
NM_001190737.2(NFIB):c.341A>C (p.Lys114Thr) rs1554709683
NM_001190737.2(NFIB):c.376A>G (p.Lys126Glu) rs1554709662
NM_001190737.2(NFIB):c.395T>C (p.Leu132Pro) rs1554709654
NM_001190737.2(NFIB):c.758_759dup (p.Asn254Ter) rs1554649366
NM_006939.4(SOS2):c.1127C>G (p.Thr376Ser) rs869320687
NM_006939.4(SOS2):c.791C>A (p.Thr264Lys)
NM_006939.4(SOS2):c.791C>G (p.Thr264Arg)
NM_006939.4(SOS2):c.800T>A (p.Met267Lys) rs797045167
NM_006939.4(SOS2):c.800T>C (p.Met267Thr) rs797045167
NM_006939.4(SOS2):c.800T>G (p.Met267Arg)

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