ClinVar Miner

List of variants in gene MTTP reported as pathogenic for autosomal recessive disease

Included ClinVar conditions (1196):
Minimum submission review status: Collection method:
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Gene type:
ClinVar version:
Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_001386140.1(MTTP):c.1619G>A (p.Arg540His) rs199422220 0.00004
NM_001386140.1(MTTP):c.1867+1G>A rs764189338 0.00004
NM_001386140.1(MTTP):c.2593G>T (p.Gly865Ter) rs146064714 0.00004
NM_001386140.1(MTTP):c.1392del (p.Glu465fs) rs1725827570 0.00001
NM_001386140.1(MTTP):c.1783C>T (p.Arg595Ter) rs199422219 0.00001
NM_001386140.1(MTTP):c.1867+5G>A rs1429774833 0.00001
NC_000004.12:g.(99601399_99613000)del
NM_001386140.1(MTTP):c.1237-1G>A rs1560621444
NM_001386140.1(MTTP):c.1237_1344del (p.Ser413_Lys448del)
NM_001386140.1(MTTP):c.1769G>T (p.Ser590Ile) rs199422222
NM_001386140.1(MTTP):c.215del (p.Pro72fs) rs1560614154
NM_001386140.1(MTTP):c.2212del (p.Ser738fs) rs755681036
NM_001386140.1(MTTP):c.2338A>T (p.Asn780Tyr) rs199422221
NM_001386140.1(MTTP):c.2342+1G>A
NM_001386140.1(MTTP):c.2578G>T (p.Glu860Ter) rs1726269709
NM_001386140.1(MTTP):c.419dup (p.Asn140fs) rs762901763
NM_001386140.1(MTTP):c.501+1G>A rs2110217173
NM_001386140.1(MTTP):c.640del (p.Ala214fs) rs2110218614
NM_001386140.1(MTTP):c.708_709del (p.His236fs) rs1553926818
NM_001386140.1(MTTP):c.730C>T (p.Gln244Ter)

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