List of variants in gene PROM1 reported as likely pathogenic by Invitae

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: 16

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HGVS	dbSNP	gnomAD frequency
NM_006017.3(PROM1):c.2490-2A>G	rs375813885	0.00011
NM_006017.3(PROM1):c.2110C>T (p.Arg704Cys)	rs1302809734	0.00001
NM_006017.3(PROM1):c.2327A>T (p.Asp776Val)	rs1033920857	0.00001
NC_000004.11:g.(?_15985866)_(15986004_?)del
NC_000004.11:g.(?_16034927)_(16050534_?)dup
NC_000004.12:g.(?_15992248)_(15998488_?)del
NM_006017.3(PROM1):c.1003-126_1008del
NM_006017.3(PROM1):c.1424T>A (p.Val475Asp)	rs2149234796
NM_006017.3(PROM1):c.1455-1G>A	rs1723543163
NM_006017.3(PROM1):c.1767+1G>A	rs1464894081
NM_006017.3(PROM1):c.1A>G (p.Met1Val)	rs748974608
NM_006017.3(PROM1):c.2130+1G>C	rs1719804501
NM_006017.3(PROM1):c.2131-1G>A	rs1577845276
NM_006017.3(PROM1):c.2280+1G>A	rs2149078329
NM_006017.3(PROM1):c.2281-2A>G	rs1718768311
NM_006017.3(PROM1):c.3G>A (p.Met1Ile)

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