List of variants in gene RNASEH2B reported as likely pathogenic for connective tissue disorder

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: 26

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HGVS	dbSNP	gnomAD frequency
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr)	rs75184679	0.00141
NM_024570.4(RNASEH2B):c.719C>G (p.Ser240Ter)	rs372632599	0.00002
NM_024570.4(RNASEH2B):c.172C>T (p.Gln58Ter)	rs75326546	0.00001
NM_024570.4(RNASEH2B):c.322-2A>T	rs772788079	0.00001
NM_024570.4(RNASEH2B):c.488C>T (p.Thr163Ile)	rs79310911	0.00001
NM_024570.4(RNASEH2B):c.617-2A>G	rs751915137	0.00001
NM_024570.4(RNASEH2B):c.65-13G>A	rs1176797481	0.00001
NM_024570.4(RNASEH2B):c.698+1G>A	rs367915667	0.00001
NM_024570.4(RNASEH2B):c.179T>G (p.Leu60Arg)	rs75325951
NM_024570.4(RNASEH2B):c.244+1G>A
NM_024570.4(RNASEH2B):c.244+2T>C
NM_024570.4(RNASEH2B):c.245-2A>C	rs2541498472
NM_024570.4(RNASEH2B):c.245-2A>G	rs2541498472
NM_024570.4(RNASEH2B):c.322-3C>G	rs767139201
NM_024570.4(RNASEH2B):c.356A>G (p.Asp119Gly)	rs786205483
NM_024570.4(RNASEH2B):c.371del (p.Asn124fs)
NM_024570.4(RNASEH2B):c.436+1G>A	rs80087649
NM_024570.4(RNASEH2B):c.437-1G>A	rs777313709
NM_024570.4(RNASEH2B):c.468C>G (p.Tyr156Ter)
NM_024570.4(RNASEH2B):c.510+1del	rs1593470515
NM_024570.4(RNASEH2B):c.511-1G>A	rs944032875
NM_024570.4(RNASEH2B):c.554T>G (p.Val185Gly)	rs74555752
NM_024570.4(RNASEH2B):c.65-1G>A	rs2541490868
NM_024570.4(RNASEH2B):c.65-2A>G
NM_024570.4(RNASEH2B):c.698+1G>C	rs367915667
NM_024570.4(RNASEH2B):c.742-1_742delinsAC	rs2541543792

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