ClinVar Miner

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

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Total variants: 40
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HGVS dbSNP gnomAD frequency
NM_144670.6(A2ML1):c.1856G>C (p.Trp619Ser) rs369180298 0.00014
NM_144670.6(A2ML1):c.2405G>A (p.Arg802His) rs201562272 0.00013
NM_144670.6(A2ML1):c.2486C>T (p.Ser829Leu) rs758305694 0.00004
NM_144670.6(A2ML1):c.1678A>G (p.Asn560Asp) rs764188902 0.00003
NM_144670.6(A2ML1):c.3685C>T (p.His1229Tyr) rs764222230 0.00002
NM_144670.6(A2ML1):c.4000G>C (p.Gly1334Arg) rs1052149878 0.00001
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_000166.6(GJB1):c.50C>G (p.Ser17Cys) rs1555937009
NM_001190737.2(NFIB):c.1063_1076del (p.Ile355fs) rs1554639173
NM_001190737.2(NFIB):c.1067C>T (p.Ser356Leu) rs1554639196
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_002834.5(PTPN11):c.762ACA[2] (p.Gln257del) rs397507524
NM_002834.5(PTPN11):c.762ACA[4] (p.Gln257dup) rs397507524
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.798_800delinsCAA (p.Glu266_Met267delinsAspLys) rs1885777585
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)
NM_144670.6(A2ML1):c.1769C>T (p.Ala590Val) rs770246364
NM_144670.6(A2ML1):c.1817A>G (p.Glu606Gly) rs1943742434
NM_144670.6(A2ML1):c.1888_1891dup (p.Asp631delinsValTer) rs746882060
NM_144670.6(A2ML1):c.2527T>G (p.Ser843Ala) rs1943919317
NM_144670.6(A2ML1):c.3124A>G (p.Thr1042Ala) rs565930773
NM_144670.6(A2ML1):c.3431del (p.Phe1144fs) rs776004500
NM_144670.6(A2ML1):c.4085C>A (p.Ser1362Tyr) rs1944508896
NM_144670.6(A2ML1):c.424G>A (p.Val142Ile) rs1943049475

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