List of variants in gene RSPH1 reported by CeGaT Center for Human Genetics Tuebingen

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: 8

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HGVS	dbSNP	gnomAD frequency
NM_080860.4(RSPH1):c.650T>G (p.Leu217Trp)	rs138007679	0.00716
NM_080860.4(RSPH1):c.450C>T (p.Ala150=)	rs117797631	0.00628
NM_080860.4(RSPH1):c.730G>A (p.Ala244Thr)	rs150400022	0.00262
NM_080860.4(RSPH1):c.501+7C>T	rs201034280	0.00184
NM_080860.4(RSPH1):c.649T>C (p.Leu217=)	rs142072750	0.00013
NM_080860.4(RSPH1):c.399G>A (p.Thr133=)	rs760016966	0.00002
NM_080860.4(RSPH1):c.630A>C (p.Lys210Asn)	rs2054078912	0.00001
NM_080860.4(RSPH1):c.723T>A (p.Ala241=)	rs761767252

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