ClinVar Miner

List of variants studied for neurocristopathy by Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen

Included ClinVar conditions (167):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 69
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HGVS dbSNP gnomAD frequency
NM_001042492.3(NF1):c.1318C>T (p.Arg440Ter) rs778405030 0.00001
NM_001042492.3(NF1):c.1466A>G (p.Tyr489Cys) rs137854557 0.00001
NM_001042492.3(NF1):c.2041C>T (p.Arg681Ter) rs768638173 0.00001
NM_001042492.3(NF1):c.2510G>A (p.Trp837Ter) rs1348129244 0.00001
NM_001042492.3(NF1):c.4600C>T (p.Arg1534Ter) rs760703505 0.00001
GRCh38/hg38 17q11.2(chr17:31155962-31163396)x1
NM_000222.3(KIT):c.237del (p.Asn80fs)
NM_001042492.3(NF1):c.1013A>G (p.Asp338Gly) rs199474773
NM_001042492.3(NF1):c.1062G>A (p.Lys354=) rs1131691118
NM_001042492.3(NF1):c.1139T>C (p.Leu380Pro) rs1555611004
NM_001042492.3(NF1):c.1152dup (p.Arg385fs)
NM_001042492.3(NF1):c.1185+5G>C rs1597682182
NM_001042492.3(NF1):c.1392+2_1392+8del
NM_001042492.3(NF1):c.1404del (p.Phe468fs)
NM_001042492.3(NF1):c.1417_1418insG (p.Thr473fs)
NM_001042492.3(NF1):c.1473T>A (p.Tyr491Ter)
NM_001042492.3(NF1):c.1548del (p.Glu517fs)
NM_001042492.3(NF1):c.1641+2_1641+3del
NM_001042492.3(NF1):c.1667_1670del (p.Asp556fs) rs1135402819
NM_001042492.3(NF1):c.1722-3C>A rs770211384
NM_001042492.3(NF1):c.1748A>G (p.Lys583Arg) rs199474760
NM_001042492.3(NF1):c.1756_1759del (p.Thr586fs) rs786202782
NM_001042492.3(NF1):c.1929_1948del (p.Met643fs)
NM_001042492.3(NF1):c.1953_1969del (p.Arg652fs)
NM_001042492.3(NF1):c.2072T>C (p.Leu691Pro) rs1131691132
NM_001042492.3(NF1):c.2152del (p.Asp718fs)
NM_001042492.3(NF1):c.2288T>C (p.Leu763Pro) rs199474762
NM_001042492.3(NF1):c.2329T>A (p.Trp777Arg) rs876658853
NM_001042492.3(NF1):c.2339C>G (p.Thr780Arg) rs199474746
NM_001042492.3(NF1):c.2409+1G>A rs1555614022
NM_001042492.3(NF1):c.2710T>A (p.Cys904Ser) rs2151429494
NM_001042492.3(NF1):c.3567del (p.Gly1190fs) rs1060500271
NM_001042492.3(NF1):c.3708G>A (p.Trp1236Ter) rs2067145586
NM_001042492.3(NF1):c.3826C>T (p.Arg1276Ter) rs199474742
NM_001042492.3(NF1):c.3974+1G>C rs1567852849
NM_001042492.3(NF1):c.3974G>C (p.Arg1325Thr) rs863224447
NM_001042492.3(NF1):c.4084C>T (p.Arg1362Ter) rs137854560
NM_001042492.3(NF1):c.4465A>G (p.Ser1489Gly) rs199474743
NM_001042492.3(NF1):c.4561dup (p.Tyr1521fs)
NM_001042492.3(NF1):c.4873_4874dup (p.His1626fs) rs1555533284
NM_001042492.3(NF1):c.4892del (p.Thr1630_Leu1631insTer) rs1555533290
NM_001042492.3(NF1):c.5030TCTATA[1] (p.Ile1679_Tyr1680del) rs1135402868
NM_001042492.3(NF1):c.5046_5047insG (p.Asn1683fs)
NM_001042492.3(NF1):c.512del (p.Asn171fs)
NM_001042492.3(NF1):c.5268+5G>T
NM_001042492.3(NF1):c.5301del (p.Glu1768fs)
NM_001042492.3(NF1):c.5813-177A>C
NM_001042492.3(NF1):c.6819+3A>G rs1555534966
NM_001042492.3(NF1):c.6852_6855del (p.Tyr2285fs) rs1555535032
NM_001042492.3(NF1):c.6855C>A (p.Tyr2285Ter) rs772295894
NM_001042492.3(NF1):c.7153AACTTT[1] (p.2385NF[1]) rs864622639
NM_001042492.3(NF1):c.7232_7233del (p.Arg2411fs) rs2151572602
NM_001042492.3(NF1):c.7372A>T (p.Arg2458Ter)
NM_001042492.3(NF1):c.7458-1G>A rs1597862012
NM_001042492.3(NF1):c.7549C>T (p.Arg2517Ter) rs866445127
NM_001042492.3(NF1):c.976_979dup (p.Leu327fs)
NM_001042492.3(NF1):c.998dup (p.Tyr333Ter) rs2066508538
NM_001135649.3(FOXI3):c.596T>G (p.Leu199Arg)
NM_001370259.2(MEN1):c.625del (p.Gln209fs) rs1114167538
NM_004656.4(BAP1):c.1228C>T (p.Gln410Ter)
NM_017780.4(CHD7):c.2587C>T (p.Gln863Ter) rs2150739058
NM_017780.4(CHD7):c.2957+2T>C rs2150749475
NM_017780.4(CHD7):c.3422_3423del (p.Val1141fs) rs2150761158
NM_017780.4(CHD7):c.3642G>T (p.Gln1214His)
NM_017780.4(CHD7):c.5238C>G (p.Tyr1746Ter) rs1554603151
NM_017780.4(CHD7):c.6521_6525del (p.Lys2174fs)
NM_017780.4(CHD7):c.6850C>T (p.Arg2284Ter) rs587783454
NM_017780.4(CHD7):c.7314del (p.Glu2439fs)
NM_017780.4(CHD7):c.8606_8607del (p.Ser2869fs)

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