ClinVar Miner

List of variants studied for autosomal recessive disease by Center for Molecular Medicine, Children’s Hospital of Fudan University

Included ClinVar conditions (1198):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_004004.6(GJB2):c.416G>A (p.Ser139Asn) rs76434661 0.00047
NM_000360.4(TH):c.605G>A (p.Arg202His) rs80338892 0.00014
NM_006019.4(TCIRG1):c.2008C>T (p.Arg670Ter) rs371263807 0.00010
NM_001384474.1(LOXHD1):c.5224C>T (p.Arg1742Cys) rs561122654 0.00004
NM_001384474.1(LOXHD1):c.4212+5G>A rs752553552 0.00003
NM_153717.3(EVC):c.2731C>T (p.Arg911Ter) rs767400887 0.00003
NM_001384474.1(LOXHD1):c.4814T>C (p.Met1605Thr) rs922663658 0.00002
NM_001384474.1(LOXHD1):c.6224G>A (p.Gly2075Glu) rs1442825433 0.00001
GRCh37/hg19 12p12.3(chr12:15800060-15865927)
NM_000277.3(PAH):c.1102G>A (p.Glu368Lys) rs1488232864
NM_000277.3(PAH):c.1109A>G (p.Glu370Gly) rs1592947508
NM_000277.3(PAH):c.1200-2A>C rs1592945607
NM_000277.3(PAH):c.1304A>T (p.Asp435Val) rs1592945394
NM_000277.3(PAH):c.1316-1G>A rs1592944816
NM_000277.3(PAH):c.32T>A (p.Leu11Ter) rs1346707834
NM_000277.3(PAH):c.346_347del (p.Asp116fs) rs1592978629
NM_000277.3(PAH):c.590T>A (p.Leu197Ter) rs886042078
NM_000360.4(TH):c.601C>T (p.Gln201Ter) rs1057517423
NM_000466.3(PEX1):c.1483+1G>A rs1585244586
NM_000466.3(PEX1):c.1727dup (p.Arg577fs) rs1585238595
NM_001384474.1(LOXHD1):c.3351-1G>A rs868646051
NM_001384474.1(LOXHD1):c.4247G>A (p.Trp1416Ter) rs2036157162
NM_004004.6(GJB2):c.235del (p.Leu79fs) rs80338943
NM_004447.6(EPS8):c.1435-2A>T rs1945336251
NM_006019.4(TCIRG1):c.1114C>T (p.Gln372Ter) rs776436008
NM_017807.4(OSGEP):c.560G>T (p.Gly187Val) rs1417690595

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