List of variants in gene ECM1 reported by GeneReviews

Minimum submission review status:		Collection method:
Minimum conflict level: Report conflict between different conditions
Gene type: Distinguish antisense genes from sense genes
		ClinVar version:

Total variants: 7

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HGVS	dbSNP	gnomAD frequency
NM_004425.4(ECM1):c.507del (p.Arg171fs)	rs869025565	0.00001
NM_004425.4(ECM1):c.506dup (p.Gly170fs)	rs869025564
NM_004425.4(ECM1):c.658T>G (p.Cys220Gly)	rs869025566
NM_004425.4(ECM1):c.727C>T (p.Arg243Ter)	rs746217361
NM_004425.4(ECM1):c.742G>T (p.Glu248Ter)	rs369508778
NM_004425.4(ECM1):c.826C>T (p.Gln276Ter)	rs869025563
NM_004425.4(ECM1):c.93_94delinsTT (p.Arg31_Gln32delinsSerTer)	rs869025567

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