ClinVar Miner

List of variants reported as uncertain significance for Hypodontia by Labcorp Genetics (formerly Invitae), Labcorp

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Total variants: 33
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HGVS dbSNP gnomAD frequency
NM_001372076.1(PAX9):c.697T>C (p.Phe233Leu) rs200733091 0.00011
NM_001372076.1(PAX9):c.930G>C (p.Leu310Phe) rs116602527 0.00006
NM_001372076.1(PAX9):c.683T>C (p.Leu228Pro) rs780494094 0.00003
NM_001372076.1(PAX9):c.271A>G (p.Lys91Glu) rs28933373 0.00001
NM_001372076.1(PAX9):c.524C>T (p.Thr175Met) rs370909756 0.00001
NC_000014.8:g.(?_37145383)_(37145677_?)del
NC_000014.8:g.(?_37145383)_(37641555_?)del
NM_001372076.1(PAX9):c.107G>T (p.Gly36Val)
NM_001372076.1(PAX9):c.151G>A (p.Gly51Ser) rs104894469
NM_001372076.1(PAX9):c.184G>A (p.Glu62Lys) rs778437280
NM_001372076.1(PAX9):c.232G>C (p.Val78Leu)
NM_001372076.1(PAX9):c.248T>G (p.Val83Gly)
NM_001372076.1(PAX9):c.259A>T (p.Ile87Phe) rs104894468
NM_001372076.1(PAX9):c.290T>A (p.Ile97Asn) rs1881349234
NM_001372076.1(PAX9):c.335G>T (p.Cys112Phe)
NM_001372076.1(PAX9):c.337_345del (p.Asp113_Tyr115del)
NM_001372076.1(PAX9):c.343T>C (p.Tyr115His)
NM_001372076.1(PAX9):c.346A>T (p.Asn116Tyr) rs1398460057
NM_001372076.1(PAX9):c.40G>C (p.Val14Leu)
NM_001372076.1(PAX9):c.437A>G (p.His146Arg)
NM_001372076.1(PAX9):c.458C>A (p.Ala153Glu)
NM_001372076.1(PAX9):c.530C>T (p.Pro177Leu)
NM_001372076.1(PAX9):c.565C>T (p.Pro189Ser)
NM_001372076.1(PAX9):c.569G>A (p.Arg190His)
NM_001372076.1(PAX9):c.689G>T (p.Arg230Leu) rs368787836
NM_001372076.1(PAX9):c.771+3G>T
NM_001372076.1(PAX9):c.772-2A>G
NM_001372076.1(PAX9):c.776C>A (p.Pro259Gln)
NM_001372076.1(PAX9):c.77G>A (p.Arg26Gln)
NM_001372076.1(PAX9):c.844_845insTTGC (p.Gln282fs) rs2139123055
NM_001372076.1(PAX9):c.959C>T (p.Ser320Leu) rs771366081
NM_001372076.1(PAX9):c.95T>C (p.Leu32Pro)
NM_001372076.1(PAX9):c.99_116del (p.Gln34_Pro39del) rs1881339978

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