ClinVar Miner

List of variants studied for endometrial disorder by Martignetti Lab, Icahn School of Medicine at Mount Sinai

Included ClinVar conditions (17):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 8
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HGVS dbSNP gnomAD frequency
NM_004985.5(KRAS):c.35G>A (p.Gly12Asp) rs121913529 0.00001
NM_000038.6(APC):c.4645C>T (p.Gln1549Ter) rs863225357
NM_000077.5(CDKN2A):c.175G>A (p.Val59Met) rs1819723898
NM_000314.8(PTEN):c.332G>A (p.Trp111Ter)
NM_000314.8(PTEN):c.754G>A (p.Asp252Asn) rs1589663499
NM_000546.6(TP53):c.785G>T (p.Gly262Val) rs1131691025
NM_001904.4(CTNNB1):c.121A>G (p.Thr41Ala) rs121913412
NM_006015.6(ARID1A):c.6436_6438del (p.Lys2146del)

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