ClinVar Miner

List of variants reported by Reutter Lab, Institute of Human Genetics, University Hospital Bonn

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Total variants: 30
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HGVS dbSNP gnomAD frequency
NM_003413.4(ZIC3):c.49G>T (p.Gly17Cys) rs147232392 0.00206
NM_017637.6(BNC2):c.2636+499C>T rs1350162888 0.00004
NM_013448.3(BAZ1A):c.3278G>A (p.Arg1093Gln) rs776556963 0.00001
GRCh37/hg19 10q11.21(chr10:43796180-44037408)x3
GRCh37/hg19 10q25.1(chr10:107722094-109081424)x3
GRCh37/hg19 12q23.1(chr12:100367541-100489446)x1
GRCh37/hg19 13q14.11(chr13:43505151-43762719)x3
GRCh37/hg19 13q31.3(chr13:93377562-93606814)x1
GRCh37/hg19 13q32.3-33.1(chr13:101605129-101748121)x1
GRCh37/hg19 15q25.2-25.3(chr15:84931022-85728834)x1
GRCh37/hg19 16q23.3(chr16:83414018-83518410)x1
GRCh37/hg19 17p13.3(chr17:1007540-1254875)x3
GRCh37/hg19 17q12(chr17:34815551-36208392)x1
GRCh37/hg19 17q25.3(chr17:80881583-81060040)x3
GRCh37/hg19 1q44(chr1:245900039-246475061)x1
GRCh37/hg19 22q11.21(chr22:18915347-21463730)x1
GRCh37/hg19 2q21.1(chr2:132140614-132312325)x3
GRCh37/hg19 4q13.3(chr4:75720151-75883784)x1
GRCh37/hg19 5q22.1(chr5:111241351-111390356)x1
GRCh37/hg19 5q23.1(chr5:118890915-119082631)x1
GRCh37/hg19 7p21.2(chr7:15424383-15534832)x3
GRCh37/hg19 7q35(chr7:147516080-147803861)x1
GRCh37/hg19 9q22.32(chr9:97290466-97419146)x1
NM_001101.5(ACTB):c.802G>C (p.Gly268Arg) rs1554329269
NM_001365536.1(SCN9A):c.721T>A (p.Ser241Thr) rs80356470
NM_001451.3(FOXF1):c.658G>T (p.Gly220Cys) rs752504125
NM_015909.4(NBAS):c.4721C>T (p.Ala1574Val) rs1553367826
NM_017637.6(BNC2):c.2663A>G (p.His888Arg) rs1563774686
NM_021120.4(DLG3):c.1145+659T>G rs1555961574
dup(5)(q23.2q23.2)

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