List of variants studied for Usher syndrome type 2C by Mendelics

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Total variants: 14

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HGVS	dbSNP	gnomAD frequency
NM_032119.4(ADGRV1):c.17626G>A (p.Val5876Ile)	rs2247870	0.45079
NM_032119.4(ADGRV1):c.9743G>A (p.Gly3248Asp)	rs16869032	0.14695
NM_032119.4(ADGRV1):c.6133G>A (p.Gly2045Arg)	rs41308846	0.00484
NM_032119.4(ADGRV1):c.1849G>A (p.Val617Met)	rs199988872	0.00046
NM_032119.4(ADGRV1):c.6559A>G (p.Ile2187Val)	rs200512504	0.00037
NM_032119.4(ADGRV1):c.6994A>T (p.Ile2332Phe)	rs193030567	0.00019
NM_032119.4(ADGRV1):c.17668_17669del (p.Met5890fs)	rs757696771	0.00006
NM_032119.4(ADGRV1):c.1797A>T (p.Arg599Ser)	rs200058876	0.00006
NM_032119.4(ADGRV1):c.16377G>T (p.Gln5459His)	rs371947306	0.00003
NM_032119.4(ADGRV1):c.13655dup (p.Asn4553fs)	rs765376986	0.00002
NM_032119.4(ADGRV1):c.14467dup (p.Val4823fs)	rs1581135405
NM_032119.4(ADGRV1):c.3133del (p.Ala1045fs)	rs1439933768
NM_032119.4(ADGRV1):c.5830G>A (p.Asp1944Asn)	rs41302834
NM_032119.4(ADGRV1):c.9208G>T (p.Asp3070Tyr)	rs1580845586

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