List of variants in gene combination LOC130061271, MKS1 reported as likely benign for Meckel syndrome

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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: 22

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HGVS	dbSNP	gnomAD frequency
NM_017777.4(MKS1):c.-18C>G	rs116514023	0.01231
NM_017777.4(MKS1):c.12C>T (p.Thr4=)	rs372471169	0.00160
NM_017777.4(MKS1):c.27C>T (p.Asp9=)	rs369488349	0.00086
NM_017777.4(MKS1):c.80+14C>T	rs761061379	0.00027
NM_017777.4(MKS1):c.70T>C (p.Leu24=)	rs538371478	0.00004
NM_017777.4(MKS1):c.30C>T (p.Thr10=)	rs576239597	0.00003
NM_017777.4(MKS1):c.30C>A (p.Thr10=)	rs576239597	0.00001
NM_017777.4(MKS1):c.51C>T (p.Ser17=)	rs1348163172	0.00001
NM_017777.4(MKS1):c.80+18G>A	rs775676586	0.00001
NM_017777.4(MKS1):c.30C>G (p.Thr10=)	rs576239597
NM_017777.4(MKS1):c.39A>G (p.Ala13=)
NM_017777.4(MKS1):c.45T>C (p.Tyr15=)
NM_017777.4(MKS1):c.52C>A (p.Arg18=)	rs557896607
NM_017777.4(MKS1):c.60C>A (p.Pro20=)
NM_017777.4(MKS1):c.69C>T (p.Asn23=)
NM_017777.4(MKS1):c.80+10C>T
NM_017777.4(MKS1):c.80+11C>G
NM_017777.4(MKS1):c.80+11del
NM_017777.4(MKS1):c.80+14C>G	rs761061379
NM_017777.4(MKS1):c.80+16C>T
NM_017777.4(MKS1):c.80+17A>G
NM_017777.4(MKS1):c.80+7G>T

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