ClinVar Miner

List of variants studied for uterine disorder by Neuberg Centre For Genomic Medicine, NCGM

Included ClinVar conditions (62):
Minimum submission review status: Collection method:
Minimum conflict level:
ClinVar version:
Total variants: 7
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HGVS dbSNP gnomAD frequency
NM_000179.3(MSH6):c.3851C>T (p.Thr1284Met) rs63750836 0.00002
NM_002439.5(MSH3):c.2396T>G (p.Leu799Arg) rs555670202 0.00001
NM_000179.3(MSH6):c.1881T>G (p.Phe627Leu)
NM_000179.3(MSH6):c.2467A>G (p.Ser823Gly) rs267608032
NM_001040108.2(MLH3):c.132G>T (p.Arg44Ser)
NM_001040108.2(MLH3):c.2799del (p.Val934fs)
NM_001127255.2(NLRP7):c.2002T>C (p.Cys668Arg)

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