ClinVar Miner

List of variants reported as uncertain significance for tooth and nail syndrome by Labcorp Genetics (formerly Invitae), Labcorp

Included ClinVar conditions (2):
Minimum submission review status: Collection method:
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ClinVar version:
Total variants: 26
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HGVS dbSNP gnomAD frequency
NM_002448.3(MSX1):c.581A>G (p.Lys194Arg) rs149092063 0.00020
NM_002448.3(MSX1):c.817G>A (p.Gly273Ser) rs184700656 0.00006
NM_002448.3(MSX1):c.365G>T (p.Gly122Val) rs28933081 0.00005
NM_002448.3(MSX1):c.251A>T (p.Glu84Val) rs28928890 0.00001
NM_002448.3(MSX1):c.310G>C (p.Gly104Arg) rs768005654 0.00001
NM_002448.3(MSX1):c.544G>A (p.Ala182Thr) rs549162057 0.00001
NM_002448.3(MSX1):c.623C>G (p.Ser208Trp) rs104893853 0.00001
NM_002448.3(MSX1):c.782C>G (p.Ala261Gly) rs1459531026 0.00001
NM_002448.3(MSX1):c.850C>T (p.Pro284Ser) rs771885867 0.00001
NM_002448.3(MSX1):c.100A>G (p.Ser34Gly)
NM_002448.3(MSX1):c.102C>G (p.Ser34Arg) rs1349964186
NM_002448.3(MSX1):c.371T>A (p.Leu124His)
NM_002448.3(MSX1):c.438G>A (p.Met146Ile)
NM_002448.3(MSX1):c.461C>T (p.Pro154Leu)
NM_002448.3(MSX1):c.470-9G>A
NM_002448.3(MSX1):c.527G>A (p.Arg176Gln)
NM_002448.3(MSX1):c.545C>T (p.Ala182Val)
NM_002448.3(MSX1):c.557C>T (p.Ala186Val)
NM_002448.3(MSX1):c.655T>C (p.Trp219Arg)
NM_002448.3(MSX1):c.670C>T (p.Arg224Cys) rs1342784720
NM_002448.3(MSX1):c.682_683del (p.Lys228fs) rs1737950636
NM_002448.3(MSX1):c.741_750del (p.Pro248fs) rs2108778693
NM_002448.3(MSX1):c.752_753delinsAA (p.Phe251Ter) rs1553878166
NM_002448.3(MSX1):c.787G>C (p.Val263Leu)
NM_002448.3(MSX1):c.796G>A (p.Ala266Thr) rs376516578
NM_002448.3(MSX1):c.89G>C (p.Gly30Ala) rs1414674827

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