ClinVar Miner

List of variants in gene GREB1L reported as pathogenic for Mayer-Rokitansky-Küster-Hauser syndrome type 2

Included ClinVar conditions (1):

Mayer-Rokitansky-Küster-Hauser syndrome type 2

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 2

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HGVS	dbSNP	gnomAD frequency
NM_001142966.3(GREB1L):c.4992T>A (p.Tyr1664Ter)	rs1377926237
NM_001142966.3(GREB1L):c.5396_5397del (p.Lys1799fs)	rs2512030033

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