List of variants in gene SERPINH1 reported by ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories

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: 14

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HGVS	dbSNP	gnomAD frequency
NM_001235.5(SERPINH1):c.598C>T (p.Leu200=)	rs651581	0.40105
NM_001235.5(SERPINH1):c.363C>G (p.Ser121=)	rs650241	0.35781
NM_001235.5(SERPINH1):c.744C>T (p.Asp248=)	rs61733248	0.00285
NM_001235.5(SERPINH1):c.722-13G>A	rs116506210	0.00185
NM_001235.5(SERPINH1):c.492C>T (p.Arg164=)	rs150586616	0.00078
NM_001235.5(SERPINH1):c.97G>C (p.Ala33Pro)	rs150061926	0.00043
NM_001235.5(SERPINH1):c.1119C>T (p.Arg373=)	rs375913094	0.00026
NM_001235.5(SERPINH1):c.1059C>T (p.His353=)	rs199548932	0.00011
NM_001235.5(SERPINH1):c.336C>T (p.Gly112=)	rs775801195	0.00005
NM_001235.5(SERPINH1):c.565A>G (p.Thr189Ala)	rs138784081	0.00003
NM_001235.5(SERPINH1):c.1222C>T (p.Arg408Trp)	rs769154335	0.00001
NM_001235.5(SERPINH1):c.827A>C (p.Glu276Ala)	rs148613550	0.00001
NM_001235.5(SERPINH1):c.658G>A (p.Asp220Asn)	rs1942139677
NM_001235.5(SERPINH1):c.954+15_954+18dup

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