ClinVar Miner

List of variants reported as pathogenic for autosomal recessive severe congenital neutropenia due to CSF3R deficiency by Invitae

Included ClinVar conditions (2):
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ClinVar version:
Total variants: 23
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HGVS dbSNP gnomAD frequency
NM_000760.4(CSF3R):c.1640G>A (p.Trp547Ter) rs138156467 0.00026
NM_000760.4(CSF3R):c.1388G>A (p.Trp463Ter) rs374536805 0.00003
NM_000760.4(CSF3R):c.340C>T (p.Gln114Ter) rs756667927 0.00001
NM_000760.4(CSF3R):c.799del (p.Glu267fs) rs759302795 0.00001
NM_000760.4(CSF3R):c.1003del (p.Thr335fs)
NM_000760.4(CSF3R):c.1072-1G>A
NM_000760.4(CSF3R):c.1072-1G>C rs992318824
NM_000760.4(CSF3R):c.1105C>T (p.Gln369Ter)
NM_000760.4(CSF3R):c.1216dup (p.Val406fs) rs890101650
NM_000760.4(CSF3R):c.1233_1234dup (p.Asn412fs)
NM_000760.4(CSF3R):c.1404del (p.Ser469fs) rs747437399
NM_000760.4(CSF3R):c.1488del (p.Gln498fs)
NM_000760.4(CSF3R):c.1525C>T (p.Gln509Ter) rs1236469336
NM_000760.4(CSF3R):c.203_221del (p.Glu68fs) rs757401069
NM_000760.4(CSF3R):c.218dup (p.Arg74fs) rs765536522
NM_000760.4(CSF3R):c.296_299del (p.Leu99fs)
NM_000760.4(CSF3R):c.32G>A (p.Trp11Ter) rs2124152665
NM_000760.4(CSF3R):c.642_650delinsTTGATCCCATGGATGTTGGTGTCTTGATCCCATGGATGTTG (p.Pro215_Leu217delinsTer) rs2124127693
NM_000760.4(CSF3R):c.690dup (p.Met231fs)
NM_000760.4(CSF3R):c.769C>T (p.Gln257Ter)
NM_000760.4(CSF3R):c.78C>A (p.Cys26Ter) rs767458386
NM_000760.4(CSF3R):c.836G>A (p.Trp279Ter) rs1650834725
NM_000760.4(CSF3R):c.935_963del (p.Arg311_Trp312insTer) rs1570588220

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