List of variants in gene MERTK reported as likely pathogenic for Retinitis pigmentosa 38

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Gene type: Distinguish antisense genes from sense genes
Show significances as they were submitted (without aggregation into standard terms)
		ClinVar version:

Total variants: 15

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HGVS	dbSNP	gnomAD frequency
NM_006343.3(MERTK):c.1296+1G>A	rs774577413	0.00006
NM_006343.3(MERTK):c.345C>G (p.Cys115Trp)	rs772421550	0.00002
NM_006343.3(MERTK):c.2303C>T (p.Ala768Val)	rs778383770	0.00001
NM_006343.3(MERTK):c.1296+5G>A	rs1553454799
NM_006343.3(MERTK):c.1301_1302del (p.Glu434fs)	rs776644374
NM_006343.3(MERTK):c.1450+2T>G	rs1573627154
NM_006343.3(MERTK):c.2162A>C (p.His721Pro)	rs778005207
NM_006343.3(MERTK):c.2192T>C (p.Leu731Ser)	rs863224894
NM_006343.3(MERTK):c.2227G>A (p.Gly743Ser)
NM_006343.3(MERTK):c.2262C>G (p.Tyr754Ter)	rs786205535
NM_006343.3(MERTK):c.2577_2578dup (p.Ser860fs)	rs1342715176
NM_006343.3(MERTK):c.370C>T (p.Gln124Ter)	rs527236134
NM_006343.3(MERTK):c.56_61+15del	rs2104652801
NM_006343.3(MERTK):c.692G>C (p.Trp231Ser)	rs1573592033
NM_006343.3(MERTK):c.721C>T (p.Gln241Ter)

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