ClinVar Miner

List of variants reported by Shanghai First Maternity and Infant Hospital, Tongji University

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Total variants: 29
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HGVS dbSNP gnomAD frequency
GRCh37/hg19 16q11.2-24.3(chr16:46503968-90155062)x3
GRCh37/hg19 22q11.1-11.21(chr22:16888899-18644241)x4
GRCh37/hg19 22q11.21(chr22:18631364-21800471)x1
GRCh37/hg19 22q11.21(chr22:18636749-21800471)x1
GRCh37/hg19 22q11.21(chr22:18648855-21461017)x3
GRCh37/hg19 22q11.21(chr22:18648855-21927646)x3
GRCh37/hg19 22q11.21(chr22:18912231-21465672)x1
GRCh37/hg19 22q11.21(chr22:18919477-21800471)x1
GRCh37/hg19 22q11.21(chr22:18922151-21449911)x1
GRCh37/hg19 22q11.21(chr22:18937380-21459713)x3
GRCh37/hg19 22q11.21(chr22:19819477-21464764)x3
GRCh37/hg19 22q11.21(chr22:20716876-21800471)x1
GRCh37/hg19 22q11.21(chr22:20729388-21454872)x3
GRCh37/hg19 22q11.21(chr22:20921342-21459713)x1
GRCh37/hg19 22q11.21(chr22:20992308-21464764)x3
GRCh37/hg19 22q11.21(chr22:21033586-21800471)x1
GRCh37/hg19 22q11.21(chr22:21059669-21800471)x1
GRCh37/hg19 22q11.22-11.23(chr22:22997928-23654007)x3
GRCh37/hg19 22q11.23(chr22:23652517-25002659)x3
GRCh37/hg19 3p13-q12.1(chr3:72488757-99614758)x3
GRCh37/hg19 6p21.1-q12(chr6:43636308-64947206)x3
GRCh37/hg19 6p25.3-25.2(chr6:375263-3655142)x1
GRCh37/hg19 8q22.1-24.3(chr8:96496503-146295711)
GRCh37/hg19 Yp11.31-q11.23(chrY:2650424-28799654)
GRCh37/hg19 Yq11.21-11.23(chrY:13905421-28799654)
NM_000142.5(FGFR3):c.742C>T (p.Arg248Cys) rs121913482
NM_000533.5(PLP1):c.709T>G (p.Phe237Val) rs1602385663
NM_001009944.3(PKD1):c.11657G>C (p.Arg3886Pro)
NM_002641.4(PIGA):c.98A>G (p.His33Arg) rs797044924

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