List of variants in gene APTX reported by Mayo Clinic Laboratories, Mayo Clinic

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_001195248.2(APTX):c.318C>T (p.Asn106=)	rs79254654	0.00842
NM_001195248.2(APTX):c.431C>A (p.Ser144Tyr)	rs34778324	0.00568
NM_001195248.2(APTX):c.971A>T (p.Gln324Leu)	rs141493373	0.00118
NM_001195248.2(APTX):c.18G>T (p.Trp6Cys)	rs144076460	0.00042
NM_001195248.2(APTX):c.191A>G (p.Asn64Ser)	rs142032370	0.00006
NM_001195248.2(APTX):c.120T>G (p.Cys40Trp)
NM_001195248.2(APTX):c.397_407dup (p.Gly137fs)
NM_001195248.2(APTX):c.484-25_484-3del	rs779869639
NM_001195248.2(APTX):c.484-25_484-4del	rs778542759
NM_001195248.2(APTX):c.484-25_484-5del	rs200922655
NM_001195248.2(APTX):c.484-25_484-6del	rs771925873
NM_001195248.2(APTX):c.484-3del	rs373304582
NM_001195248.2(APTX):c.548A>G (p.Tyr183Cys)	rs1031784368

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