List of variants in gene XPR1 studied for Basal ganglia calcification, idiopathic, 6

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: 13

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HGVS	dbSNP	gnomAD frequency
NM_004736.4(XPR1):c.762C>T (p.Ala254=)	rs776659201	0.00007
NM_004736.4(XPR1):c.1887C>A (p.Ile629=)	rs761801981	0.00006
NM_004736.4(XPR1):c.2018G>A (p.Arg673His)	rs368909346	0.00005
NM_004736.4(XPR1):c.1954G>A (p.Val652Ile)	rs748681314	0.00001
NM_004736.4(XPR1):c.1135-8dup	rs113553362
NM_004736.4(XPR1):c.1158C>G (p.Phe386Leu)	rs61742073
NM_004736.4(XPR1):c.1811G>A (p.Arg604Gln)	rs2102226595
NM_004736.4(XPR1):c.407G>A (p.Ser136Asn)	rs786205902
NM_004736.4(XPR1):c.419T>C (p.Leu140Pro)	rs786205903
NM_004736.4(XPR1):c.434T>C (p.Leu145Pro)	rs786205901
NM_004736.4(XPR1):c.653T>C (p.Leu218Ser)	rs786205904
NM_004736.4(XPR1):c.66T>C (p.Tyr22=)
NM_004736.4(XPR1):c.863A>G (p.Asn288Ser)

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