ClinVar Miner

List of variants studied for multiple congenital anomalies/dysmorphic syndrome by Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery, Institute of Otolaryngology, Chinese PLA General Hospital

Included ClinVar conditions (870):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 57
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HGVS dbSNP gnomAD frequency
NM_002834.5(PTPN11):c.188A>G (p.Tyr63Cys) rs121918459 0.00001
NM_006941.4(SOX10):c.482G>A (p.Arg161His) rs750566714 0.00001
NM_181458.4(PAX3):c.706C>A (p.Arg236Ser) rs769650688 0.00001
GRCh37/hg19 22q13.1(chr22:38155164-38541997)
GRCh37/hg19 2q36.1(chr2:222199886-222298997)
GRCh37/hg19 3p13(chr3:69985815-69985964)
GRCh37/hg19 3p14.1-13(chr3:69739463-69968331)
NM_001122659.3(EDNRB):c.57C>A (p.Cys19Ter) rs768126403
NM_001354604.2(MITF):c.1031+1G>A rs1559749017
NM_001354604.2(MITF):c.1096C>T (p.Arg366Ter) rs2066482593
NM_001354604.2(MITF):c.1129C>T (p.Arg377Ter) rs876657699
NM_001354604.2(MITF):c.1198C>T (p.Arg400Ter) rs1464157509
NM_001354604.2(MITF):c.1230G>A (p.Thr410=) rs1057521096
NM_001354604.2(MITF):c.1273G>T (p.Glu425Ter) rs149617956
NM_001354604.2(MITF):c.1377del (p.Asn459fs) rs2066652447
NM_001354604.2(MITF):c.928A>G (p.Arg310Gly) rs2066264802
NM_001354604.2(MITF):c.961C>T (p.Arg321Ter) rs104893746
NM_001354604.2(MITF):c.964AGA[2] (p.Arg324del) rs1553704814
NM_001354604.2(MITF):c.967del (p.Arg323fs) rs2066400236
NM_001354604.2(MITF):c.969_973del (p.Arg323fs) rs2066400330
NM_002834.5(PTPN11):c.1471C>G (p.Pro491Ala) rs397507539
NM_002834.5(PTPN11):c.1471C>T (p.Pro491Ser) rs397507539
NM_002834.5(PTPN11):c.1472C>T (p.Pro491Leu) rs397507540
NM_002834.5(PTPN11):c.1510A>G (p.Met504Val) rs397507547
NM_002834.5(PTPN11):c.1529A>G (p.Gln510Arg) rs121918470
NM_002834.5(PTPN11):c.179G>C (p.Gly60Ala) rs397507509
NM_002834.5(PTPN11):c.417G>C (p.Glu139Asp) rs397507520
NM_002834.5(PTPN11):c.836A>G (p.Tyr279Cys) rs121918456
NM_006941.4(SOX10):c.1063C>T (p.Gln355Ter) rs1932137446
NM_006941.4(SOX10):c.1195C>T (p.Gln399Ter) rs1932130190
NM_006941.4(SOX10):c.127C>T (p.Arg43Ter) rs1555939523
NM_006941.4(SOX10):c.1352_1359dup (p.His454fs) rs1601878540
NM_006941.4(SOX10):c.232C>T (p.Gln78Ter) rs1555939491
NM_006941.4(SOX10):c.323T>C (p.Met108Thr) rs1932464492
NM_006941.4(SOX10):c.326A>G (p.Asn109Ser) rs1932464388
NM_006941.4(SOX10):c.335T>G (p.Met112Arg) rs1932463844
NM_006941.4(SOX10):c.341G>A (p.Trp114Ter) rs1932463755
NM_006941.4(SOX10):c.386T>C (p.Leu129Pro) rs1932462410
NM_006941.4(SOX10):c.424T>C (p.Trp142Arg) rs1555939408
NM_006941.4(SOX10):c.428+1G>A rs1932460904
NM_006941.4(SOX10):c.448A>T (p.Lys150Ter) rs1932280017
NM_006941.4(SOX10):c.463G>T (p.Glu155Ter) rs1932279377
NM_006941.4(SOX10):c.502del (p.His168fs) rs1932278265
NM_006941.4(SOX10):c.523C>T (p.Pro175Ser) rs1555938395
NM_006941.4(SOX10):c.776_780del (p.Asp259fs) rs1932149722
NM_006941.4(SOX10):c.7G>T (p.Glu3Ter) rs1932482365
NM_181458.4(PAX3):c.143del (p.Gly48fs) rs1695346408
NM_181458.4(PAX3):c.210C>A (p.Cys70Ter) rs1356246522
NM_181458.4(PAX3):c.241G>C (p.Gly81Arg) rs483353059
NM_181458.4(PAX3):c.264del (p.Leu87_Cys88insTer) rs1695337485
NM_181458.4(PAX3):c.667C>T (p.Arg223Ter) rs772241382
NM_181458.4(PAX3):c.671C>T (p.Thr224Ile) rs1692623308
NM_181458.4(PAX3):c.755T>C (p.Leu252Pro) rs1692619812
NM_181458.4(PAX3):c.784C>T (p.Arg262Ter) rs886041319
NM_181458.4(PAX3):c.811C>T (p.Arg271Cys) rs1380858784
NM_181458.4(PAX3):c.812G>A (p.Arg271His) rs774528745
NM_181458.4(PAX3):c.925dup (p.Glu309fs) rs1692180906

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