ClinVar Miner

List of variants studied for ADULT syndrome by OMIM

Included ClinVar conditions (3):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 6
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HGVS dbSNP gnomAD frequency
NM_001114980.2(TP63):c.16A>C (p.Asn6His) rs113993963
NM_003722.5(TP63):c.1009C>G (p.Arg337Gly) rs113993966
NM_003722.5(TP63):c.1010G>A (p.Arg337Gln) rs113993967
NM_003722.5(TP63):c.797G>A (p.Arg266Gln) rs121908849
P127L
TP63, VAL114MET

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