ClinVar Miner

List of variants in gene RIN2 studied for cutis laxa

Included ClinVar conditions (42):
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Gene type:
ClinVar version:
Total variants: 20
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HGVS dbSNP gnomAD frequency
NM_018993.4(RIN2):c.1818C>T (p.His606=) rs2076584 0.35224
NM_018993.4(RIN2):c.2201-47G>A rs6136905 0.10785
NM_018993.4(RIN2):c.85G>A (p.Gly29Arg) rs78648341 0.01238
NM_018993.4(RIN2):c.84C>T (p.Ile28=) rs181853315 0.00670
NM_018993.4(RIN2):c.1851C>T (p.Ala617=) rs180817901 0.00173
NM_018993.4(RIN2):c.41G>A (p.Arg14Gln) rs367797077 0.00032
NM_018993.4(RIN2):c.797A>T (p.Asn266Ile) rs201551000 0.00030
NM_018993.4(RIN2):c.2398A>T (p.Ser800Cys) rs368984007 0.00021
NM_018993.4(RIN2):c.2436C>T (p.Tyr812=) rs540923982 0.00007
NM_018993.4(RIN2):c.159-17G>A rs372254069 0.00004
NM_018993.4(RIN2):c.899G>A (p.Gly300Asp) rs751256990 0.00001
NM_018993.4(RIN2):c.1555G>C (p.Ala519Pro)
NM_018993.4(RIN2):c.1642G>A (p.Val548Met) rs181298473
NM_018993.4(RIN2):c.1731del (p.Ile578fs) rs759390822
NM_018993.4(RIN2):c.1731dup (p.Ile578fs) rs759390822
NM_018993.4(RIN2):c.1914_1915del (p.Glu638fs) rs587776915
NM_018993.4(RIN2):c.2104dup (p.Leu702fs) rs1568718508
NM_018993.4(RIN2):c.2492del (p.Pro831fs)
NM_018993.4(RIN2):c.277_278dup (p.His94fs) rs1600939486
NM_018993.4(RIN2):c.923C>A (p.Pro308Gln) rs374058245

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