List of variants in gene HADHA reported as likely pathogenic by Counsyl

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: 21

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HGVS	dbSNP	gnomAD frequency
NM_000182.5(HADHA):c.180+3A>G	rs781222705	0.00005
NM_000182.5(HADHA):c.919-2A>G	rs200017313	0.00004
NM_000182.5(HADHA):c.315-1G>A	rs1458898996	0.00001
NM_000182.5(HADHA):c.1052del (p.Lys351fs)	rs1057516556
NM_000182.5(HADHA):c.129dup (p.Gly44fs)	rs1298883200
NM_000182.5(HADHA):c.180+1G>A	rs786205088
NM_000182.5(HADHA):c.1A>G (p.Met1Val)	rs1057517430
NM_000182.5(HADHA):c.240G>A (p.Trp80Ter)	rs1057516326
NM_000182.5(HADHA):c.274_278del (p.Ser92fs)	rs781205883
NM_000182.5(HADHA):c.3G>A (p.Met1Ile)	rs1237270916
NM_000182.5(HADHA):c.453+1G>A	rs1057516417
NM_000182.5(HADHA):c.515del (p.Pro172fs)	rs1057517282
NM_000182.5(HADHA):c.64C>T (p.Arg22Ter)	rs1300516636
NM_000182.5(HADHA):c.677-1G>A	rs1553314070
NM_000182.5(HADHA):c.703C>T (p.Arg235Trp)	rs786204607
NM_000182.5(HADHA):c.72del (p.Gly23_Tyr24insTer)	rs1553316176
NM_000182.5(HADHA):c.800-1G>T	rs1553314024
NM_000182.5(HADHA):c.800-1_801del	rs1553314023
NM_000182.5(HADHA):c.844_845insA (p.Val282fs)	rs774235292
NM_000182.5(HADHA):c.871C>T (p.Arg291Ter)	rs137852775
NM_000182.5(HADHA):c.914T>A (p.Ile305Asn)	rs137852774

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