List of variants in gene AMPD1 reported by CeGaT Center for Human Genetics Tuebingen

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: 11

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HGVS	dbSNP	gnomAD frequency
NM_000036.3(AMPD1):c.143C>T (p.Pro48Leu)	rs61752479	0.08857
NM_000036.3(AMPD1):c.34C>T (p.Gln12Ter)	rs17602729	0.08701
NM_000036.3(AMPD1):c.930G>T (p.Met310Ile)	rs61752478	0.00384
NM_000036.3(AMPD1):c.99A>G (p.Gly33=)	rs61752480	0.00310
NM_000036.3(AMPD1):c.468G>T (p.Gln156His)	rs139582106	0.00096
NM_000036.3(AMPD1):c.195C>T (p.Ser65=)	rs150208948	0.00044
NM_000036.3(AMPD1):c.971A>G (p.Gln324Arg)	rs150190849	0.00029
NM_000036.3(AMPD1):c.144G>A (p.Pro48=)	rs145786786	0.00002
NM_000036.3(AMPD1):c.1875A>G (p.Leu625=)
NM_000036.3(AMPD1):c.224G>A (p.Arg75His)	rs61738827
NM_000036.3(AMPD1):c.946C>T (p.Leu316=)

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