ClinVar Miner

List of variants reported by Biochemistry Laboratory of CDMU, Chengde Medical University

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Total variants: 35
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HGVS dbSNP gnomAD frequency
NM_001360.3(DHCR7):c.907G>A (p.Gly303Arg) rs142808899 0.00014
NM_001360.3(DHCR7):c.278C>T (p.Thr93Met) rs80338853 0.00009
NM_001039141.3(TRIOBP):c.154G>A (p.Asp52Asn) rs147691840 0.00005
NM_001164508.2(NEB):c.11341C>T (p.Arg3781Trp) rs533027587 0.00005
NM_015425.6(POLR1A):c.2527C>T (p.Arg843Ter) rs1377622831 0.00003
NM_001039141.3(TRIOBP):c.6548G>A (p.Gly2183Asp) rs780554525 0.00002
NM_002180.3(IGHMBP2):c.1693G>A (p.Asp565Asn) rs770111639 0.00002
NM_015506.3(MMACHC):c.609G>A (p.Trp203Ter) rs587776889 0.00002
NM_000277.3(PAH):c.728G>A (p.Arg243Gln) rs62508588 0.00001
NM_000277.3(PAH):c.875C>T (p.Pro292Leu) rs1200240274 0.00001
NM_000344.4(SMN1):c.840C>T (p.Phe280=) rs1164325688 0.00001
NM_004208.4(AIFM1):c.452G>A (p.Arg151Gln) rs752742151 0.00001
NM_005006.7(NDUFS1):c.64C>T (p.Arg22Ter) rs750971390 0.00001
NM_005006.7(NDUFS1):c.845A>G (p.Asn282Ser) rs1485032272 0.00001
NM_015166.4(MLC1):c.206C>T (p.Ser69Leu) rs281875309 0.00001
NM_000276.4(OCRL):c.2428C>T (p.Arg810Ter) rs1569463775
NM_000533.5(PLP1):c.104G>A (p.Cys35Tyr) rs1569427275
NM_001083962.2(TCF4):c.1486+2T>G rs1555721921
NM_001110792.2(MECP2):c.722C>A (p.Ser241Ter) rs61749739
NM_001110792.2(MECP2):c.961C>T (p.Arg321Trp) rs61751444
NM_001164508.2(NEB):c.24206C>A (p.Ser8069Ter) rs1037388276
NM_001242896.3(DEPDC5):c.1936dup (p.Ser646fs) rs1569012755
NM_001349338.3(FOXP1):c.1630C>T (p.Arg544Ter)
NM_001384140.1(PCDH15):c.4308GCC[7] (p.Pro1442_Pro1443dup) rs559130985
NM_002180.3(IGHMBP2):c.1202A>G (p.His401Arg) rs1566439723
NM_005445.4(SMC3):c.1071_1074del (p.Glu358fs) rs1590556722
NM_006509.4(RELB):c.401AGC[3] (p.Gln135dup) rs1971369702
NM_014795.4(ZEB2):c.2177_2180del (p.Ser726fs) rs786204821
NM_015166.4(MLC1):c.833A>G (p.Tyr278Cys) rs1569244190
NM_015335.5(MED13L):c.6260del (p.Pro2087fs) rs1565982697
NM_022168.4(IFIH1):c.1517T>A (p.Ile506Asn) rs1320095792
NM_033056.4(PCDH15):c.5254_5280del (p.Pro1752_Pro1760del) rs767526540
NM_133443.4(GPT2):c.1172C>T (p.Pro391Leu) rs140993544
NM_153252.5(BRWD3):c.256G>A (p.Glu86Lys) rs1569290395
Single allele

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