ClinVar Miner

List of variants studied for developmental defect during embryogenesis by Medical Molecular Genetics Department, National Research Center

Included ClinVar conditions (2031):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 24
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HGVS dbSNP gnomAD frequency
NM_000046.5(ARSB):c.478C>T (p.Arg160Ter) rs1255777033 0.00002
NM_000046.5(ARSB):c.152T>C (p.Leu51Pro) rs1554032220
NM_000046.5(ARSB):c.189_190insA (p.Gly64fs) rs1554032196
NM_000046.5(ARSB):c.245T>G (p.Leu82Arg) rs749465732
NM_000046.5(ARSB):c.257del (p.Tyr86fs) rs1554032122
NM_000046.5(ARSB):c.281C>T (p.Ser94Leu) rs1554032099
NM_000046.5(ARSB):c.288C>G (p.Ser96Arg) rs1554032095
NM_000046.5(ARSB):c.479G>A (p.Arg160Gln) rs1196325597
NM_001004051.4(GPRASP2):c.2363G>T (p.Ser788Ile)
NM_001042492.3(NF1):c.1A>C (p.Met1Leu) rs1060500252
NM_001042492.3(NF1):c.2086_2088del (p.Trp696del) rs2067017409
NM_001042492.3(NF1):c.2325+1G>T rs1555613933
NM_001042492.3(NF1):c.2521A>C (p.Thr841Pro) rs2067066952
NM_001042492.3(NF1):c.3452dup (p.Asn1151fs) rs2067137617
NM_001042492.3(NF1):c.3579T>G (p.Phe1193Leu) rs2067142728
NM_001042492.3(NF1):c.4981_4984del (p.Lys1661fs) rs2069329829
NM_001042492.3(NF1):c.6847dup (p.Asp2283fs) rs2069743612
NM_001371623.1(TCOF1):c.3388del (p.Leu1130fs)
NM_001371623.1(TCOF1):c.3679_3697delinsCTCTGG (p.Asp1227fs) rs2151059839
NM_001371623.1(TCOF1):c.3987_3988del (p.Lys1330fs) rs2151100918
NM_001371623.1(TCOF1):c.4141G>T (p.Glu1381Ter) rs1768581035
NM_001371623.1(TCOF1):c.4369_4372del (p.Glu1457fs)
NM_015972.4(POLR1D):c.60dup (p.Gly21fs)
NM_016277.5(RAB23):c.398+1G>A rs2127998616

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