ClinVar Miner

List of variants in gene ADGRV1 reported as likely pathogenic for not provided

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Gene type:
ClinVar version:
Total variants: 77
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HGVS dbSNP gnomAD frequency
NM_032119.4(ADGRV1):c.16225C>T (p.Arg5409Ter) rs199806093 0.00003
NM_032119.4(ADGRV1):c.13893+1G>A rs1472239682 0.00002
NM_032119.4(ADGRV1):c.5524+2T>C rs371375835 0.00002
NM_032119.4(ADGRV1):c.11581-2A>G rs1204470864 0.00001
NM_032119.4(ADGRV1):c.12120+1G>A rs766190197 0.00001
NM_032119.4(ADGRV1):c.14365C>T (p.Arg4789Trp) rs1131691924 0.00001
NM_032119.4(ADGRV1):c.14366G>A (p.Arg4789Gln) rs765849229 0.00001
NM_032119.4(ADGRV1):c.14972+1G>T rs780011571 0.00001
NM_032119.4(ADGRV1):c.14975C>G (p.Ser4992Ter) rs900228710 0.00001
NM_032119.4(ADGRV1):c.17455-2A>T rs1279862720 0.00001
NM_032119.4(ADGRV1):c.4378G>A (p.Gly1460Ser) rs1303930496 0.00001
NM_032119.4(ADGRV1):c.4441C>T (p.Gln1481Ter) rs973342972 0.00001
NM_032119.4(ADGRV1):c.9042G>C (p.Met3014Ile) rs763733110 0.00001
NM_032119.4(ADGRV1):c.9623+1G>A rs749982150 0.00001
NM_032119.4(ADGRV1):c.9749-2del rs1751549898 0.00001
NM_032119.4(ADGRV1):c.9907-1G>A rs769286352 0.00001
NC_000005.9:g.(?_89920927)_(89923613_?)dup
NC_000005.9:g.(?_89938433)_(89948400_?)dup
NC_000005.9:g.(?_89938453)_(89949769_?)dup
NM_032119.4(ADGRV1):c.10549+1G>A
NM_032119.4(ADGRV1):c.10935_10938del (p.Ser3646fs) rs1754555183
NM_032119.4(ADGRV1):c.10974+1G>A rs1754560628
NM_032119.4(ADGRV1):c.10975-2A>C
NM_032119.4(ADGRV1):c.11377+1G>A rs2149966329
NM_032119.4(ADGRV1):c.11757+1G>A rs886498535
NM_032119.4(ADGRV1):c.11757+2T>A rs1755861358
NM_032119.4(ADGRV1):c.11757+2T>C
NM_032119.4(ADGRV1):c.1180del (p.Ser394fs) rs1400695342
NM_032119.4(ADGRV1):c.12120+1_12120+2del
NM_032119.4(ADGRV1):c.12285+1G>T
NM_032119.4(ADGRV1):c.12528-17T>G
NM_032119.4(ADGRV1):c.12849+1G>T
NM_032119.4(ADGRV1):c.12850-1G>T rs1758546944
NM_032119.4(ADGRV1):c.13083-1G>A rs2150094107
NM_032119.4(ADGRV1):c.13231+1G>A
NM_032119.4(ADGRV1):c.13433+2T>C
NM_032119.4(ADGRV1):c.13434-2A>T
NM_032119.4(ADGRV1):c.13622dup (p.Arg4542fs) rs1759155995
NM_032119.4(ADGRV1):c.13654-2A>G
NM_032119.4(ADGRV1):c.13894-1G>C
NM_032119.4(ADGRV1):c.14044-1G>A rs1223656686
NM_032119.4(ADGRV1):c.14662-2A>C rs1761796594
NM_032119.4(ADGRV1):c.14973-1G>A
NM_032119.4(ADGRV1):c.15980TCT[1] (p.Phe5328del) rs766355750
NM_032119.4(ADGRV1):c.16197-1G>A rs1561805689
NM_032119.4(ADGRV1):c.16611+1G>A
NM_032119.4(ADGRV1):c.17235T>G (p.Tyr5745Ter) rs1057520080
NM_032119.4(ADGRV1):c.17303_17315del (p.Gly5768fs) rs727504644
NM_032119.4(ADGRV1):c.17455-2A>G rs1279862720
NM_032119.4(ADGRV1):c.18152+1G>A rs2151049870
NM_032119.4(ADGRV1):c.18152+1G>T
NM_032119.4(ADGRV1):c.18433-1G>A
NM_032119.4(ADGRV1):c.18433-2A>G
NM_032119.4(ADGRV1):c.18625-1G>T
NM_032119.4(ADGRV1):c.18625-2A>G
NM_032119.4(ADGRV1):c.23-1G>A
NM_032119.4(ADGRV1):c.2553+1G>A
NM_032119.4(ADGRV1):c.2785_2898+82del rs2149436201
NM_032119.4(ADGRV1):c.3022+2T>G
NM_032119.4(ADGRV1):c.3151_3152del (p.Asp1051fs)
NM_032119.4(ADGRV1):c.3289+1G>A rs1221977534
NM_032119.4(ADGRV1):c.3G>A (p.Met1Ile)
NM_032119.4(ADGRV1):c.425dup (p.Asn142fs)
NM_032119.4(ADGRV1):c.4379-1G>A rs1432643009
NM_032119.4(ADGRV1):c.558+1G>T
NM_032119.4(ADGRV1):c.5664+1G>A
NM_032119.4(ADGRV1):c.5967dup (p.Val1990fs) rs778288846
NM_032119.4(ADGRV1):c.6245_6249del (p.Thr2082fs)
NM_032119.4(ADGRV1):c.6707-1G>T
NM_032119.4(ADGRV1):c.673-2A>G rs2149375770
NM_032119.4(ADGRV1):c.6786_6790delinsCGGTGG (p.Thr2264fs) rs1746377687
NM_032119.4(ADGRV1):c.8155+2_8155+3del
NM_032119.4(ADGRV1):c.8156-1G>A
NM_032119.4(ADGRV1):c.8347G>T (p.Glu2783Ter)
NM_032119.4(ADGRV1):c.8824+1G>A rs2149707525
NM_032119.4(ADGRV1):c.9178dup (p.Thr3060fs) rs1749485242
NM_032119.4(ADGRV1):c.9749-1G>T

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