List of variants in gene DHCR7 reported as likely pathogenic by Myriad Genetics, Inc.

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: 17

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HGVS	dbSNP	gnomAD frequency
NM_001360.3(DHCR7):c.724C>T (p.Arg242Cys)	rs80338856	0.00012
NM_001360.3(DHCR7):c.725G>A (p.Arg242His)	rs80338857	0.00004
NM_001360.3(DHCR7):c.1342G>A (p.Glu448Lys)	rs80338864	0.00003
NM_001360.3(DHCR7):c.506C>T (p.Ser169Leu)	rs80338855	0.00001
NM_001360.3(DHCR7):c.116C>G (p.Ser39Ter)	rs1467346010
NM_001360.3(DHCR7):c.155_157delinsCCAT (p.Phe52fs)
NM_001360.3(DHCR7):c.177_178delinsT (p.Met59fs)
NM_001360.3(DHCR7):c.199del (p.Ala67fs)
NM_001360.3(DHCR7):c.300T>A (p.Tyr100Ter)	rs1949375897
NM_001360.3(DHCR7):c.305T>A (p.Leu102Ter)
NM_001360.3(DHCR7):c.388C>T (p.Gln130Ter)	rs1949357136
NM_001360.3(DHCR7):c.401_402del (p.Val134fs)
NM_001360.3(DHCR7):c.495_496del (p.Ser166fs)
NM_001360.3(DHCR7):c.567T>A (p.Tyr189Ter)
NM_001360.3(DHCR7):c.627C>A (p.Cys209Ter)	rs1949322246
NM_001360.3(DHCR7):c.630del (p.Lys210fs)
NM_001360.3(DHCR7):c.906C>G (p.Phe302Leu)	rs80338858

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