ClinVar Miner

List of variants reported as pathogenic for Trichorhinophalangeal dysplasia type I

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Total variants: 29
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HGVS dbSNP gnomAD frequency
GRCh37/hg19 8q23.3-24.11(chr8:115662767-117718250)
NG_012383.3:g.(70130_86397)_(87002_255549)del
NG_012383.3:g.(70130_86397)_(87002_255549)dup
NG_012383.3:g.(87002_255549)_(259980_?)del
NM_014112.5(TRPS1):c.1053C>A (p.Cys351Ter) rs121908430
NM_014112.5(TRPS1):c.1373C>A (p.Ser458Ter)
NM_014112.5(TRPS1):c.1630C>T (p.Arg544Ter) rs886040971
NM_014112.5(TRPS1):c.1693C>T (p.Gln565Ter) rs864621974
NM_014112.5(TRPS1):c.1870C>T (p.Arg624Ter) rs121908431
NM_014112.5(TRPS1):c.2090dup (p.His697fs) rs2130489877
NM_014112.5(TRPS1):c.2110del (p.Cys704fs) rs1586431903
NM_014112.5(TRPS1):c.2445dup (p.Ser816fs) rs2130444636
NM_014112.5(TRPS1):c.2480dup (p.Thr828fs) rs2130444402
NM_014112.5(TRPS1):c.2557C>T (p.Arg853Ter) rs121908432
NM_014112.5(TRPS1):c.2666del (p.Asn889fs) rs1586430715
NM_014112.5(TRPS1):c.2892_2899dup (p.Asn967fs) rs1563714392
NM_014112.5(TRPS1):c.2893C>T (p.Arg965Cys) rs28939069
NM_014112.5(TRPS1):c.2894G>A (p.Arg965His) rs28939070
NM_014112.5(TRPS1):c.2927_2931del (p.Leu976fs) rs2129751330
NM_014112.5(TRPS1):c.3315C>G (p.Tyr1105Ter) rs121908434
NM_014112.5(TRPS1):c.3400_3401insGAGG (p.Val1134fs) rs2129748003
NM_014112.5(TRPS1):c.3659del (p.Arg1220fs)
NM_014112.5(TRPS1):c.3698G>A (p.Cys1233Tyr) rs1586249260
NM_014112.5(TRPS1):c.697C>T (p.Gln233Ter)
NM_014112.5(TRPS1):c.769C>T (p.Arg257Ter) rs2130531352
NM_014112.5(TRPS1):c.877C>T (p.Gln293Ter)
Single allele
inv(8)(q13q24.1)
inv(8)(q21.1q24.1)

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