List of variants in gene DCDC2, KAAG1 studied for cholangitis

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: 18

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HGVS	dbSNP	gnomAD frequency
NM_016356.5(DCDC2):c.183C>T (p.Ala61=)	rs33943110	0.04583
NM_016356.5(DCDC2):c.222C>A (p.Ile74=)	rs138670560	0.00022
NM_016356.5(DCDC2):c.68G>T (p.Arg23Leu)	rs745333409	0.00009
NM_016356.5(DCDC2):c.151G>C (p.Val51Leu)	rs554313786	0.00001
NM_016356.5(DCDC2):c.278C>A (p.Ala93Asp)	rs776415168	0.00001
NM_016356.5(DCDC2):c.45C>A (p.Val15=)	rs148029760	0.00001
NM_016356.5(DCDC2):c.57G>T (p.Val19=)	rs577487337	0.00001
NM_016356.5(DCDC2):c.93G>A (p.Gly31=)	rs938050921	0.00001
NM_016356.5(DCDC2):c.123_124del (p.Ser42fs)	rs757704417
NM_016356.5(DCDC2):c.125C>T (p.Ser42Phe)
NM_016356.5(DCDC2):c.144G>C (p.Leu48=)
NM_016356.5(DCDC2):c.23C>T (p.Ser8Phe)
NM_016356.5(DCDC2):c.293+20C>T
NM_016356.5(DCDC2):c.51G>C (p.Lys17Asn)	rs1042640142
NM_016356.5(DCDC2):c.71A>C (p.Asn24Thr)	rs2127257711
NM_016356.5(DCDC2):c.76G>C (p.Asp26His)
NM_016356.5(DCDC2):c.85T>C (p.Tyr29His)	rs748676214
NM_016356.5(DCDC2):c.99C>T (p.Arg33=)

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