List of variants in gene AMPD1 reported as uncertain significance by Eurofins NTD LLC (GA)

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: 27

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HGVS	dbSNP	gnomAD frequency
NM_000036.3(AMPD1):c.860A>T (p.Lys287Ile)	rs34526199	0.02732
NM_000036.3(AMPD1):c.930G>T (p.Met310Ile)	rs61752478	0.00384
NM_000036.3(AMPD1):c.1162C>T (p.Arg388Trp)	rs35859650	0.00208
NM_000036.3(AMPD1):c.767+18C>A	rs146422068	0.00084
NM_000036.3(AMPD1):c.1721G>A (p.Gly574Glu)	rs150645738	0.00070
NM_000036.3(AMPD1):c.1570T>A (p.Ser524Thr)	rs140181682	0.00053
NM_000036.3(AMPD1):c.1274G>A (p.Arg425His)	rs121912682	0.00031
NM_000036.3(AMPD1):c.971A>G (p.Gln324Arg)	rs150190849	0.00029
NM_000036.3(AMPD1):c.1819T>C (p.Leu607=)	rs141900642	0.00025
NM_000036.3(AMPD1):c.1975-10A>G	rs778542166	0.00006
NM_000036.3(AMPD1):c.636C>T (p.Asp212=)	rs181412206	0.00004
NM_000036.3(AMPD1):c.759A>C (p.Gln253His)	rs767365709	0.00004
NM_000036.3(AMPD1):c.152A>G (p.His51Arg)	rs997373043	0.00003
NM_000036.3(AMPD1):c.2173A>G (p.Met725Val)	rs778481612	0.00003
NM_000036.3(AMPD1):c.548-9T>C	rs201714031	0.00003
NM_000036.3(AMPD1):c.617A>G (p.Tyr206Cys)	rs376201207	0.00003
NM_000036.3(AMPD1):c.1432A>G (p.Met478Val)	rs528215739	0.00002
NM_000036.3(AMPD1):c.144G>A (p.Pro48=)	rs145786786	0.00002
NM_000036.3(AMPD1):c.296T>C (p.Ile99Thr)	rs765248906	0.00002
NM_000036.3(AMPD1):c.1801-9C>T	rs775205237	0.00001
NM_000036.3(AMPD1):c.215+8G>A	rs781556684	0.00001
NM_000036.3(AMPD1):c.462G>A (p.Ser154=)	rs770286295	0.00001
NM_000036.3(AMPD1):c.793A>G (p.Lys265Glu)	rs886044350	0.00001
NM_000036.3(AMPD1):c.1170C>G (p.Leu390=)	rs566349141
NM_000036.3(AMPD1):c.1191C>T (p.Tyr397=)	rs571473762
NM_000036.3(AMPD1):c.309T>A (p.Ile103=)	rs398123115
NM_000036.3(AMPD1):c.513T>A (p.Gly171=)	rs751594548

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