ClinVar Miner

List of variants reported as pathogenic for multiple congenital anomalies/dysmorphic syndrome by Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard

Included ClinVar conditions (856):
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ClinVar version:
Total variants: 75
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HGVS dbSNP gnomAD frequency
NM_016146.6(TRAPPC4):c.454+3A>G rs375776811 0.00025
NM_000540.3(RYR1):c.10348-6C>G rs193922837 0.00010
NM_006767.4(LZTR1):c.1943-256C>T rs761685529 0.00009
NM_015634.4(KIFBP):c.599C>A (p.Ser200Ter) rs730882150 0.00006
NM_000135.4(FANCA):c.2T>C (p.Met1Thr) rs769479800 0.00004
NM_000540.3(RYR1):c.1589G>A (p.Arg530His) rs111888148 0.00003
NM_153816.6(SNX14):c.331C>T (p.Arg111Ter) rs760752847 0.00002
NM_002834.5(PTPN11):c.1403C>T (p.Thr468Met) rs121918457 0.00001
NM_153816.6(SNX14):c.2670del (p.Lys889_Cys890insTer) rs774694340 0.00001
GRCh38/hg38 10q26.2-26.3(chr10:125976998-133427130)x1
GRCh38/hg38 13q32.2-34(chr13:98343655-110990677)x1
GRCh38/hg38 16p13.3(chr16:3818098-3858843)x1
GRCh38/hg38 16q24.3(chr16:89764114-89781847)x0
GRCh38/hg38 17p13.3-12(chr17:165730-11404096)x3
GRCh38/hg38 1q42.11-42.12(chr1:224304638-224434886)x1
GRCh38/hg38 22q11.21(chr22:18985739-21081116)x1
GRCh38/hg38 4q24(chr4:106170998-106171368)x0
GRCh38/hg38 5p15.33-15.2(chr5:9999-14320000)x1
GRCh38/hg38 5q14.3-15(chr5:88189536-93784597)x1
GRCh38/hg38 5q35.2-35.3(chr5:176447531-177312407)x1
GRCh38/hg38 6q25.1-25.3(chr6:150905553-158511926)x1
GRCh38/hg38 6q25.3(chr6:157036218-157111403)x1
GRCh38/hg38 7q22.1(chr7:98454022-100723798)x1
GRCh38/hg38 7q35(chr7:147043810-147167670)x0
GRCh38/hg38 7q36.2-36.3(chr7:154446117-159206757)x1
NM_000135.4(FANCA):c.1492del (p.Leu498fs)
NM_000135.4(FANCA):c.4010+1_4010+18del rs752457319
NM_001083962.2(TCF4):c.1144_1145insC (p.Leu382fs)
NM_001083962.2(TCF4):c.1153C>T (p.Arg385Ter) rs121909122
NM_001083962.2(TCF4):c.840_841insGAGAAAG (p.Ser281fs)
NM_001347721.2(DYRK1A):c.586C>T (p.Arg196Ter) rs724159949
NM_001365902.3(NFIX):c.413del (p.Lys138fs)
NM_001374828.1(ARID1B):c.3955dup (p.Gln1319fs) rs1289067120
NM_001374828.1(ARID1B):c.4299C>A (p.Tyr1433Ter) rs1583491515
NM_001374828.1(ARID1B):c.4804C>T (p.Gln1602Ter)
NM_001375380.1(EBF3):c.934C>T (p.Arg312Ter) rs1064796669
NM_001904.4(CTNNB1):c.807del (p.Met271fs) rs2078160286
NM_003482.4(KMT2D):c.15061C>T (p.Arg5021Ter) rs587783695
NM_004380.3(CREBBP):c.4567_4568del (p.Phe1523fs)
NM_005359.6(SMAD4):c.1499T>C (p.Ile500Thr) rs281875321
NM_006015.6(ARID1A):c.4087C>T (p.Gln1363Ter)
NM_006912.6(RIT1):c.170C>G (p.Ala57Gly) rs672601334
NM_012233.3(RAB3GAP1):c.1555-1G>A rs1573584395
NM_012233.3(RAB3GAP1):c.748+1G>A rs587776651
NM_012330.4(KAT6B):c.4205_4206del (p.Ser1402fs) rs199470477
NM_013275.6(ANKRD11):c.7192C>T (p.Gln2398Ter) rs1265287370
NM_014233.4(UBTF):c.628G>A (p.Glu210Lys) rs1555582065
NM_014795.4(ZEB2):c.1426dup (p.Met476fs) rs587776604
NM_014795.4(ZEB2):c.1884del (p.Phe628fs) rs786204811
NM_014795.4(ZEB2):c.2083C>T (p.Arg695Ter) rs137852981
NM_014795.4(ZEB2):c.2761C>T (p.Arg921Ter) rs587784566
NM_014795.4(ZEB2):c.904C>T (p.Arg302Ter) rs587784571
NM_015443.4(KANSL1):c.2470C>T (p.Arg824Ter) rs2077221203
NM_015443.4(KANSL1):c.611dup (p.Met205fs)
NM_017780.4(CHD7):c.3431del (p.Leu1144fs)
NM_017780.4(CHD7):c.4015C>T (p.Arg1339Ter) rs1563644066
NM_017780.4(CHD7):c.6079C>T (p.Arg2027Ter) rs886040995
NM_017780.4(CHD7):c.7276del (p.Gln2426fs) rs1805723571
NM_019066.5(MAGEL2):c.1996dup (p.Gln666fs) rs770374710
NM_020964.3(EPG5):c.1252+1G>A
NM_020964.3(EPG5):c.2413-2A>G
NM_020964.3(EPG5):c.6724del (p.Met2242fs)
NM_022455.5(NSD1):c.3904C>T (p.Gln1302Ter)
NM_024757.5(EHMT1):c.1051del (p.Asp351fs)
NM_030632.3(ASXL3):c.1849_1850del (p.Ser617fs) rs1599563995
NM_030632.3(ASXL3):c.1961_1962insA (p.Ser654_Ser655insTer)
NM_030632.3(ASXL3):c.902_911del (p.Arg301fs)
NM_130466.4(UBE3B):c.2569-2A>C
NM_138927.4(SON):c.286C>T (p.Gln96Ter) rs886039777
NM_138927.4(SON):c.5753_5756del (p.Val1918fs) rs886039773
NM_152564.5(VPS13B):c.2014-2A>G rs1588095580
NM_152564.5(VPS13B):c.412+1G>T rs1057517295
NM_152564.5(VPS13B):c.5244dup (p.Val1749fs) rs752399634
NM_152564.5(VPS13B):c.9185dup (p.Leu3062fs) rs180177329
Single allele

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